(used for variant description)
(last modified December 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001041.3 in the SI gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017043.1, covering SI transcript NM_001041.3.
(upstream sequence)
g.5003
tta c.-61
. . . . . . g.5063
ttttggcagccttatccaagtctggtacaacatagcaaagagaacaggctatgaaataag c.-1
| 02 . . . . . . g.7543
| ATGGCAAGAAAGAAATTTAGTGGATTGGAAATCTCTCTGATTGTCCTTTTTGTCATAGTT c.60
| M A R K K F S G L E I S L I V L F V I V p.20
. . . . . | 03 g.8830
ACTATAATAGCTATTGCCTTAATTGTTGTTTTAGCAACTAAGACACCTGCTGTTGATG | AA c.120
T I I A I A L I V V L A T K T P A V D E | p.40
. . . . . . g.8890
ATTAGTGATTCTACTTCAACTCCAGCTACTACTCGTGTGACTACAAATCCTTCTGATTCA c.180
I S D S T S T P A T T R V T T N P S D S p.60
. . . . . . g.8950
GGAAAATGTCCAAATGTGTTAAATGATCCTGTCAATGTGAGAATAAACTGCATTCCAGAA c.240
G K C P N V L N D P V N V R I N C I P E p.80
. | 04 . . . . . g.14345
CAATTCCCAACAGAG | GGAATTTGTGCACAGAGAGGCTGCTGCTGGAGGCCGTGGAATGAC c.300
Q F P T E | G I C A Q R G C C W R P W N D p.100
. . . . . . g.14405
TCTCTTATTCCTTGGTGCTTCTTCGTTGATAATCATGGTTATAACGTTCAAGACATGACA c.360
S L I P W C F F V D N H G Y N V Q D M T p.120
. | 05 . . . . . g.14711
ACAACAAGTATTG | GAGTTGAAGCCAAATTAAACAGGATACCTTCACCTACACTATTTGGA c.420
T T S I G | V E A K L N R I P S P T L F G p.140
. . . . . . g.14771
AATGACATCAACAGTGTTCTCTTCACAACTCAAAATCAGACACCCAATCGTTTCCGGTTC c.480
N D I N S V L F T T Q N Q T P N R F R F p.160
| 06 . . . . . . g.16061
AAG | ATTACTGATCCAAATAATAGAAGATATGAAGTTCCTCATCAGTATGTAAAAGAGTTT c.540
K | I T D P N N R R Y E V P H Q Y V K E F p.180
. . . . . . g.16121
ACTGGACCCACAGTTTCTGATACGTTGTATGATGTGAAGGTTGCCCAAAACCCATTTAGC c.600
T G P T V S D T L Y D V K V A Q N P F S p.200
. . . | 07 . . . g.18088
ATCCAAGTTATTAGGAAAAGCAACGGTAAAACTTT | GTTTGACACCAGCATTGGTCCCTTA c.660
I Q V I R K S N G K T L | F D T S I G P L p.220
. . . . . . g.18148
GTGTACTCTGACCAGTACTTACAGATCTCAACCCGTCTTCCAAGTGATTATATTTATGGT c.720
V Y S D Q Y L Q I S T R L P S D Y I Y G p.240
. . . . . . g.18208
ATTGGAGAACAAGTTCATAAGAGATTTCGTCATGATTTATCCTGGAAAACATGGCCAATT c.780
I G E Q V H K R F R H D L S W K T W P I p.260
. . | 08. . . . g.19987
TTTACTCGAGACCAACTTCCTGGTGAT | AATAATAATAATTTATACGGCCATCAAACATTC c.840
F T R D Q L P G D | N N N N L Y G H Q T F p.280
. . . . . . g.20047
TTTATGTGTATTGAAGATACATCTGGAAAGTCATTCGGTGTTTTTTTAATGAATAGCAAT c.900
F M C I E D T S G K S F G V F L M N S N p.300
| 09. . . . . . g.21065
GCAATGG | AGATTTTTATCCAGCCTACTCCAATAGTAACATATAGAGTTACCGGTGGCATT c.960
A M E | I F I Q P T P I V T Y R V T G G I p.320
. . . . . . g.21125
CTGGATTTTTACATCCTTCTAGGAGATACACCAGAACAAGTAGTTCAACAGTATCAACAG c.1020
L D F Y I L L G D T P E Q V V Q Q Y Q Q p.340
| 10 . . . . . . g.23528
| CTTGTTGGACTACCAGCAATGCCAGCATATTGGAATCTTGGATTCCAACTAAGTCGCTGG c.1080
| L V G L P A M P A Y W N L G F Q L S R W p.360
. . . . . . g.23588
AATTATAAGTCACTAGATGTAGTGAAAGAAGTGGTAAGGAGAAACCGGGAAGCTGGCATA c.1140
N Y K S L D V V K E V V R R N R E A G I p.380
| 11 . . . . . . g.24250
CCATTT | GATACACAGGTCACTGATATTGACTACATGGAAGACAAGAAAGACTTTACTTAT c.1200
P F | D T Q V T D I D Y M E D K K D F T Y p.400
. . . . . . g.24310
GATCAAGTTGCGTTTAACGGACTCCCTCAATTTGTGCAAGATTTGCATGACCATGGACAG c.1260
D Q V A F N G L P Q F V Q D L H D H G Q p.420
. | 12 . . . . g.24455
AAATATGTCATCATCTTG | GACCCTGCAATTTCCATAGGTCGACGTGCCAATGGAACAACA c.1320
K Y V I I L | D P A I S I G R R A N G T T p.440
. . . . . . g.24515
TATGCAACCTATGAGAGGGGAAACACACAACATGTGTGGATAAATGAGTCAGATGGAAGT c.1380
Y A T Y E R G N T Q H V W I N E S D G S p.460
. | 13 . . . . g.28230
ACACCAATTATTGGAGAG | GTATGGCCAGGATTAACAGTATACCCTGATTTCACTAACCCA c.1440
T P I I G E | V W P G L T V Y P D F T N P p.480
. . . . . . g.28290
AACTGCATTGATTGGTGGGCAAATGAATGCAGTATTTTCCATCAAGAAGTGCAATATGAT c.1500
N C I D W W A N E C S I F H Q E V Q Y D p.500
. | 14 . . . . . g.33668
GGACTTTGGATT | GACATGAATGAAGTTTCCAGCTTTATTCAAGGTTCAACAAAAGGATGT c.1560
G L W I | D M N E V S S F I Q G S T K G C p.520
. . . | 15. . . g.34274
AATGTAAACAAATTGAATTATCCACCGTTTACTCCTG | ATATTCTTGACAAACTCATGTAT c.1620
N V N K L N Y P P F T P D | I L D K L M Y p.540
. . . . . . g.34334
TCCAAAACAATTTGCATGGATGCTGTGCAGAACTGGGGTAAACAGTATGATGTTCATAGC c.1680
S K T I C M D A V Q N W G K Q Y D V H S p.560
. . . | 16 . . . g.36508
CTCTATGGATACAGCATGGCTATAGCCACAGAGCA | AGCTGTACAAAAAGTTTTTCCTAAT c.1740
L Y G Y S M A I A T E Q | A V Q K V F P N p.580
. . . . . . g.36568
AAGAGAAGCTTCATTCTTACCCGCTCAACATTTGCTGGATCTGGAAGACATGCTGCGCAT c.1800
K R S F I L T R S T F A G S G R H A A H p.600
. . . . . . g.36628
TGGTTAGGAGACAATACTGCTTCATGGGAACAAATGGAATGGTCTATAACTGGAATGCTG c.1860
W L G D N T A S W E Q M E W S I T G M L p.620
. . | 17. . . . g.40353
GAGTTCAGTTTGTTTGGAATACCTTTG | GTTGGAGCAGACATCTGTGGATTTGTGGCTGAA c.1920
E F S L F G I P L | V G A D I C G F V A E p.640
. . . . . . g.40413
ACCACAGAAGAACTTTGCAGAAGATGGATGCAACTTGGGGCATTTTATCCATTTTCCAGA c.1980
T T E E L C R R W M Q L G A F Y P F S R p.660
. . | 18 . . . . g.42437
AACCATAATTCTGACGGATATGAA | CATCAGGATCCTGCATTTTTTGGGCAGAATTCACTT c.2040
N H N S D G Y E | H Q D P A F F G Q N S L p.680
. . . . . . g.42497
TTGGTTAAATCATCAAGGCAGTATTTAACTATTCGCTACACCTTATTACCCTTCCTCTAC c.2100
L V K S S R Q Y L T I R Y T L L P F L Y p.700
. . . . . | 19 g.43525
ACTCTGTTTTATAAAGCCCATGTGTTTGGAGAAACAGTAGCAAGACCAGTTCTTCATGA | G c.2160
T L F Y K A H V F G E T V A R P V L H E | p.720
. . . . . . g.43585
TTTTATGAGGATACGAACAGCTGGATTGAGGACACTGAGTTTTTGTGGGGCCCTGCATTA c.2220
F Y E D T N S W I E D T E F L W G P A L p.740
. . | 20 . . . . g.44397
CTTATTACTCCTGTTCTAAAACAG | GGAGCAGATACTGTGAGTGCCTACATCCCTGATGCT c.2280
L I T P V L K Q | G A D T V S A Y I P D A p.760
. . | 21 . . . . g.45510
ATTTGGTATGATTATGAATCT | GGTGCAAAAAGGCCATGGAGGAAACAACGGGTTGATATG c.2340
I W Y D Y E S | G A K R P W R K Q R V D M p.780
. . . . . . g.45570
TATCTTCCAGCAGACAAAATAGGATTACATCTTAGAGGAGGTTATATCATCCCCATTCAA c.2400
Y L P A D K I G L H L R G G Y I I P I Q p.800
. . | 22 . . . . g.47052
GAACCAGATGTAACAACAACAGCAAG | CCGTAAGAATCCTCTAGGACTTATAGTCGCATTA c.2460
E P D V T T T A S | R K N P L G L I V A L p.820
. . . . . | 23 . g.50056
GGTGAAAACAACACAGCCAAAGGAGACTTTTTCTGGGATGATGGAGAAACTAAAG | ATACA c.2520
G E N N T A K G D F F W D D G E T K D | T p.840
. . . . | 24 . . g.50818
ATACAAAATGGCAACTACATATTATATACATTTTCAGTTTCTAAT | AACACATTAGATATT c.2580
I Q N G N Y I L Y T F S V S N | N T L D I p.860
. . . . . . g.50878
GTGTGCACACATTCATCATATCAGGAAGGAACTACCTTAGCATTTCAGACTGTAAAAATC c.2640
V C T H S S Y Q E G T T L A F Q T V K I p.880
. . . . . . g.50938
CTTGGGTTGACAGACAGTGTTACAGAAGTTAGAGTGGCGGAAAATAATCAACCAATGAAC c.2700
L G L T D S V T E V R V A E N N Q P M N p.900
. . . | 25 . . . g.52652
GCTCATTCCAATTTCACTTATGATGCTTCTAACCAG | GTTCTCCTAATTGCAGATCTCAAA c.2760
A H S N F T Y D A S N Q | V L L I A D L K p.920
. . . . . . g.52712
CTTAATCTTGGAAGAAACTTTAGTGTTCAATGGAATCAAATTTTCTCAGAAAATGAAAGA c.2820
L N L G R N F S V Q W N Q I F S E N E R p.940
. . . . . . g.52772
TTTAATTGTTATCCAGATGCAGATTTGGCAACTGAACAAAAGTGCACACAACGTGGCTGT c.2880
F N C Y P D A D L A T E Q K C T Q R G C p.960
. | 26 . . . . . g.59767
GTATGGAGAACG | GGTTCTTCTCTATCCAAAGCACCTGAGTGTTACTTTCCCAGACAAGAT c.2940
V W R T | G S S L S K A P E C Y F P R Q D p.980
. . . . . . g.59827
AACTCTTATTCAGTCAACTCAGCTCGCTATTCATCCATGGGTATAACAGCTGACCTCCAA c.3000
N S Y S V N S A R Y S S M G I T A D L Q p.1000
. . . . . . g.59887
CTAAATACTGCAAATGCCAGAATAAAGTTACCTTCTGACCCCATCTCAACTCTTCGTGTG c.3060
L N T A N A R I K L P S D P I S T L R V p.1020
. . . | 27 . . g.62133
GAGGTGAAATATCACAAAAATGATATGTTGCAGTTTAAG | ATTTATGATCCCCAAAAGAAG c.3120
E V K Y H K N D M L Q F K | I Y D P Q K K p.1040
. . . . . . g.62193
AGATATGAAGTACCAGTACCGTTAAACATTCCAACCACCCCAATAAGTACTTATGAAGAC c.3180
R Y E V P V P L N I P T T P I S T Y E D p.1060
. . . . . . g.62253
AGACTTTATGATGTGGAAATCAAGGAAAATCCTTTTGGCATCCAGATTCGACGGAGAAGC c.3240
R L Y D V E I K E N P F G I Q I R R R S p.1080
. | 28 . . . . . g.63771
AGTGGAAGAGTCAT | TTGGGATTCTTGGCTGCCTGGATTTGCTTTTAATGACCAGTTCATT c.3300
S G R V I | W D S W L P G F A F N D Q F I p.1100
. . . . . . g.63831
CAAATATCGACTCGCCTGCCATCAGAATATATATATGGTTTTGGGGAAGTGGAACATACA c.3360
Q I S T R L P S E Y I Y G F G E V E H T p.1120
. . . . . . g.63891
GCATTTAAGCGAGATCTGAACTGGAATACTTGGGGAATGTTCACAAGAGACCAACCCCCT c.3420
A F K R D L N W N T W G M F T R D Q P P p.1140
| 29 . . . . . . g.65486
GGT | TACAAACTTAATTCCTATGGATTTCATCCCTATTACATGGCTCTGGAAGAGGAGGGC c.3480
G | Y K L N S Y G F H P Y Y M A L E E E G p.1160
. . . . | 30 . . g.65642
AATGCTCATGGTGTTTTCTTACTCAACAGCAATGCAATGG | ATGTTACATTCCAGCCAACT c.3540
N A H G V F L L N S N A M D | V T F Q P T p.1180
. . . . . . g.65702
CCTGCTCTAACTTACCGTACAGTTGGAGGGATCTTGGATTTTTATATGTTTTTGGGCCCA c.3600
P A L T Y R T V G G I L D F Y M F L G P p.1200
. . . | 31 . . . g.65849
ACTCCAGAAGTTGCAACAAAGCAATACCATGAA | GTAATTGGCCATCCAGTCATGCCAGCT c.3660
T P E V A T K Q Y H E | V I G H P V M P A p.1220
. . . . . . g.65909
TATTGGGCTTTGGGATTCCAATTATGTCGTTATGGATATGCAAATACTTCAGAGGTTCGG c.3720
Y W A L G F Q L C R Y G Y A N T S E V R p.1240
. . . | 32 . . g.67436
GAATTATATGACGCTATGGTGGCTGCTAACATCCCCTAT | GATGTTCAGTACACAGACATT c.3780
E L Y D A M V A A N I P Y | D V Q Y T D I p.1260
. . . . . . g.67496
GACTACATGGAAAGGCAGCTAGACTTTACAATTGGTGAAGCATTCCAGGACCTTCCTCAG c.3840
D Y M E R Q L D F T I G E A F Q D L P Q p.1280
. . . . | 33 . g.68274
TTTGTTGACAAAATAAGAGGAGAAGGAATGAGATACATTATTATCCTG | GATCCAGCAATT c.3900
F V D K I R G E G M R Y I I I L | D P A I p.1300
. . . . . . g.68334
TCAGGAAATGAAACAAAGACTTACCCTGCATTTGAAAGAGGACAGCAGAATGATGTCTTT c.3960
S G N E T K T Y P A F E R G Q Q N D V F p.1320
. . . | 34 . . g.70474
GTCAAATGGCCAAACACCAATGACATTTGTTGGGCAAAG | GTTTGGCCAGATTTGCCCAAC c.4020
V K W P N T N D I C W A K | V W P D L P N p.1340
. . . . | 35 . . g.74118
ATAACAATAGATAAAACTCTAACGGAAGATGAAGCTGTTAAT | GCTTCCAGAGCTCATGTA c.4080
I T I D K T L T E D E A V N | A S R A H V p.1360
. . . . . . g.74178
GCTTTCCCAGATTTCTTCAGGACTTCCACAGCAGAGTGGTGGGCCAGAGAAATTGTGGAC c.4140
A F P D F F R T S T A E W W A R E I V D p.1380
. . . | 36 . . g.75518
TTTTACAATGAAAAGATGAAGTTTGATGGTTTGTGGATT | GATATGAATGAGCCATCAAGT c.4200
F Y N E K M K F D G L W I | D M N E P S S p.1400
. . . . . . g.75578
TTTGTAAATGGAACAACTACTAATCAATGCAGAAATGACGAACTAAATTATCCACCTTAT c.4260
F V N G T T T N Q C R N D E L N Y P P Y p.1420
| 37. . . . . . g.76594
TTCCCAG | AACTCACAAAAAGAACTGATGGATTACATTTCAGAACAATTTGCATGGAAGCT c.4320
F P E | L T K R T D G L H F R T I C M E A p.1440
. . . . . . g.76654
GAGCAGATTCTTAGTGATGGAACATCAGTTTTGCATTACGATGTTCACAATCTCTATGGA c.4380
E Q I L S D G T S V L H Y D V H N L Y G p.1460
. . | 38 . . . . g.84856
TGGTCACAGATGAAACCTACTCATGA | TGCATTGCAGAAGACAACTGGAAAAAGAGGGATT c.4440
W S Q M K P T H D | A L Q K T T G K R G I p.1480
. . . . . . g.84916
GTAATTTCTCGTTCCACGTATCCTACTAGTGGACGATGGGGAGGACACTGGCTTGGAGAC c.4500
V I S R S T Y P T S G R W G G H W L G D p.1500
. . . . | 39 . . g.86743
AACTATGCACGATGGGACAACATGGACAAATCAATCATTG | GTATGATGGAATTTAGTCTG c.4560
N Y A R W D N M D K S I I G | M M E F S L p.1520
. | 40 . . . . . g.86889
TTTGGAATGTCATAT | ACTGGAGCAGACATCTGTGGTTTTTTCAACAACTCAGAATATCAT c.4620
F G M S Y | T G A D I C G F F N N S E Y H p.1540
. . . . . . g.86949
CTCTGTACCCGCTGGATGCAACTTGGAGCATTTTATCCATACTCAAGGAATCACAACATT c.4680
L C T R W M Q L G A F Y P Y S R N H N I p.1560
. | 41 . . . . . g.89138
GCAAATACTAGA | AGACAAGATCCCGCTTCCTGGAATGAAACTTTTGCTGAAATGTCAAGG c.4740
A N T R | R Q D P A S W N E T F A E M S R p.1580
. . . . . . g.89198
AATATTCTAAATATTAGATACACCTTATTGCCCTATTTTTACACACAAATGCATGAAATT c.4800
N I L N I R Y T L L P Y F Y T Q M H E I p.1600
. . . . | 42 . . g.91117
CATGCTAATGGTGGCACTGTTATCCGACCCCTTTTGCATGA | GTTCTTTGATGAAAAACCA c.4860
H A N G G T V I R P L L H E | F F D E K P p.1620
. . . . . . g.91177
ACCTGGGATATATTCAAGCAGTTCTTATGGGGTCCAGCATTTATGGTTACCCCAGTACTG c.4920
T W D I F K Q F L W G P A F M V T P V L p.1640
| 43 . . . . . . g.91316
GAACCT | TATGTTCAAACTGTAAATGCCTACGTCCCCAATGCTCGGTGGTTTGACTACCAT c.4980
E P | Y V Q T V N A Y V P N A R W F D Y H p.1660
| 44 . . . . . . g.92075
ACA | GGCAAAGATATTGGCGTCAGAGGACAATTTCAAACATTTAATGCTTCTTATGACACA c.5040
T | G K D I G V R G Q F Q T F N A S Y D T p.1680
. . . . . . g.92135
ATAAACCTACATGTCCGTGGTGGTCACATCCTACCATGTCAAGAGCCAGCTCAAAACACA c.5100
I N L H V R G G H I L P C Q E P A Q N T p.1700
| 45 . . . . . g.96321
TTTTACAG | TCGACAAAAACACATGAAGCTCATTGTTGCTGCAGATGATAATCAGATGGCA c.5160
F Y S | R Q K H M K L I V A A D D N Q M A p.1720
. . . | 46. . . g.100467
CAGGGTTCTCTGTTTTGGGATGATGGAGAGAGTATAG | ACACCTATGAAAGAGACCTATAT c.5220
Q G S L F W D D G E S I D | T Y E R D L Y p.1740
. . | 47. . . . g.101118
TTATCTGTACAATTTAATTTAAACCAG | ACCACCTTAACAAGCACTATATTGAAGAGAGGT c.5280
L S V Q F N L N Q | T T L T S T I L K R G p.1760
. . . . . . g.101178
TACATAAATAAAAGTGAAACGAGGCTTGGATCCCTTCATGTATGGGGGAAAGGAACTACT c.5340
Y I N K S E T R L G S L H V W G K G T T p.1780
. . . . . . g.101238
CCTGTCAATGCAGTTACTCTAACGTATAACGGAAATAAAAATTCGCTTCCTTTTAATGAA c.5400
P V N A V T L T Y N G N K N S L P F N E p.1800
. | 48 . . . . . g.104110
GACACTACCAACATG | ATATTACGTATTGATCTGACCACACACAATGTTACTCTAGAAGAA c.5460
D T T N M | I L R I D L T T H N V T L E E p.1820
. . g.104134
CCAATAGAAATCAACTGGTCATGA c.5484
P I E I N W S X p.1827
. . . . . . g.104194
agatcaccatcaattttagttgtcaatgggaaaaaacaccaggatttaagtttcacagca c.*60
. . . . . . g.104254
cttacaattttccctcttcacttggttcttgtactctacaaaatatagctttcataacat c.*120
. . . . . . g.104314
cgaaaagttattttgtagcgtacatcaatgataatgctaattttattatagtaatgtgac c.*180
. . . . . . g.104374
ttggattcaattttaaggcatatttaacaaaatttgaatagccctatttatccttgttaa c.*240
. . . . . . g.104434
gtatcagctacaattgtaaactagttactaaacatgtatgtaaatagctaagatataatt c.*300
. . . . . . g.104494
taaacgtgatttttaaattaaataaaatttttatgtaattatatatactatatttttctc c.*360
. . . . . . g.104554
aatgtttagcagatttaagatatgtaacaacaattatttgaagatttaattacttcttag c.*420
. . . . g.104598
tatgtgcatttaattagaaaaagagaataaaaaatgtaagtgta c.*464
(downstream sequence)
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