(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_014425.3 in the INVS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008316.1, covering INVS transcript NM_014425.3.
(upstream sequence)
. . . . g.5032
agaggatgggaactacaattcccagaaggatgtgcggccga c.-181
. . . . . . g.5092
aagcctcgggcggccttttgaggggctcggctagcttcagcgccgtggggtctgacctgg c.-121
. . . . . . g.5152
ctggatatagtgtaccggcccggcaggaggggcggcccggtccgggttgcgcctcctgga c.-61
. . . . | 02 . . g.10293
gccgcccccgggacgtcagtcctggaggaggcgagg | gttgctccggttgctaagaagact c.-1
. . . . . . g.10353
ATGAACAAGTCAGAGAACCTGCTGTTTGCTGGTTCATCATTAGCATCACAAGTCCATGCT c.60
M N K S E N L L F A G S S L A S Q V H A p.20
. . . . | 03 . . g.32168
GCTGCCGTTAATGGAGATAAGGGTGCTCTACAGAGGCTCATCGTAG | GAAACTCTGCTCTT c.120
A A V N G D K G A L Q R L I V G | N S A L p.40
. . . . . . g.32228
AAAGACAAAGAAGATCAGTTTGGGAGAACACCACTTATGTATTGCGTGTTGGCTGACAGA c.180
K D K E D Q F G R T P L M Y C V L A D R p.60
. . . . . . g.32288
TTGGATTGTGCAGATGCTCTTCTGAAGGCAGGAGCAGATGTGAATAAAACTGACCATAGC c.240
L D C A D A L L K A G A D V N K T D H S p.80
. . . | 04 . . . g.131860
CAGAGAACAGCCCTCCATCTTGCAGCCCAGAAG | GGAAATTATCGTTTCATGAAACTCTTA c.300
Q R T A L H L A A Q K | G N Y R F M K L L p.100
. . . . . . g.131920
CTTACACGCAGAGCAAACTGGATGCAAAAGGATCTGGAAGAGATGACTCCTTTGCACTTG c.360
L T R R A N W M Q K D L E E M T P L H L p.120
. . . . . . g.131980
ACCACCCGGCACAGGAGCCCTAAGTGTTTGGCACTTCTGCTGAAGTTTATGGCACCAGGA c.420
T T R H R S P K C L A L L L K F M A P G p.140
. . | 05. . . . g.135464
GAAGTGGATACACAGGATAAAAACAAG | CAAACAGCTCTGCATTGGAGTGCCTACTACAAT c.480
E V D T Q D K N K | Q T A L H W S A Y Y N p.160
. . . . . . g.135524
AACCCTGAGCATGTGAAGCTGCTCATCAAGCATGATTCTAACATTGGGATTCCTGATGTT c.540
N P E H V K L L I K H D S N I G I P D V p.180
. . . . . . g.135584
GAAGGCAAGATCCCACTTCACTGGGCAGCCAACCATAAAGATCCAAGTGCTGTTCACACA c.600
E G K I P L H W A A N H K D P S A V H T p.200
. | 06 . . . . . g.145876
GTGAGATGCATTCTG | GATGCTGCTCCAACAGAGTCTTTACTGAACTGGCAAGACTACGAG c.660
V R C I L | D A A P T E S L L N W Q D Y E p.220
. . . . . . g.145936
GGTCGAACTCCTCTTCACTTTGCAGTTGCTGATGGGAATGTGACCGTGGTTGATGTCTTG c.720
G R T P L H F A V A D G N V T V V D V L p.240
. . . . . . g.145996
ACCTCATATGAAAGCTGCAATATAACGTCTTATGATAACTTATTTCGAACCCCACTGCAC c.780
T S Y E S C N I T S Y D N L F R T P L H p.260
. | 07 . . . . . g.148385
TGGGCAGCTTTATTAG | GCCATGCACAGATTGTCCATCTCCTTTTAGAAAGAAATAAGTCT c.840
W A A L L G | H A Q I V H L L L E R N K S p.280
. . . . . . g.148445
GGAACTATCCCATCTGACAGCCAAGGAGCCACACCTTTGCACTATGCTGCTCAGAGTAAC c.900
G T I P S D S Q G A T P L H Y A A Q S N p.300
| 08 . . . . . . g.152441
TTTGCT | GAAACGGTTAAAGTGTTTTTAAAACATCCTTCAGTGAAAGATGATTCAGACCTG c.960
F A | E T V K V F L K H P S V K D D S D L p.320
. . . . . . g.152501
GAAGGAAGAACATCCTTTATGTGGGCAGCTGGCAAAGGCAGTGATGATGTCCTTAGAACT c.1020
E G R T S F M W A A G K G S D D V L R T p.340
. . . . . | 09 g.158056
ATGCTGAGCTTAAAATCGGACATAGATATTAACATGGCTGACAAATATGGAGGTACAG | CT c.1080
M L S L K S D I D I N M A D K Y G G T A | p.360
. . . . . . g.158116
TTGCATGCTGCTGCTCTTTCTGGCCATGTCAGCACCGTGAAGTTATTACTGGAAAATAAT c.1140
L H A A A L S G H V S T V K L L L E N N p.380
. . . . . . g.158176
GCTCAAGTAGATGCTACTGATGTTATGAAACATACTCCACTTTTCCGAGCCTGTGAGATG c.1200
A Q V D A T D V M K H T P L F R A C E M p.400
. . . | 10 . . . g.158704
GGACACAAAGATGTGATTCAGACACTCATTAAAG | GTGGAGCAAGGGTAGATCTAGTTGAC c.1260
G H K D V I Q T L I K G | G A R V D L V D p.420
. . . . . . g.158764
CAAGATGGACATTCTCTTCTACATTGGGCAGCACTGGGAGGAAATGCTGATGTTTGCCAG c.1320
Q D G H S L L H W A A L G G N A D V C Q p.440
. . . . . . g.158824
ATATTAATAGAAAATAAGATCAATCCAAATGTCCAGGATTATGCAGGAAGAACCCCTTTG c.1380
I L I E N K I N P N V Q D Y A G R T P L p.460
. . . . . . g.158884
CAGTGTGCAGCATATGGAGGCTATATCAACTGCATGGCAGTTCTCATGGAAAACAATGCA c.1440
Q C A A Y G G Y I N C M A V L M E N N A p.480
. . | 11 . . . . g.170629
GACCCTAACATTCAAGACAAAGAG | GGAAGAACAGCTTTGCATTGGTCCTGCAACAATGGA c.1500
D P N I Q D K E | G R T A L H W S C N N G p.500
. . . . . . g.170689
TACCTTGATGCCATTAAATTACTGCTAGACTTTGCTGCTTTCCCTAATCAGATGGAAAAC c.1560
Y L D A I K L L L D F A A F P N Q M E N p.520
. | 12 . . . . . g.178684
AATGAAGAGAG | ATACACACCCCTTGATTATGCTTTGCTTGGTGAGCGCCATGAAGTGATC c.1620
N E E R | Y T P L D Y A L L G E R H E V I p.540
. . . . . . g.178744
CAGTTCATGTTGGAGCACGGTGCCCTGTCCATCGCAGCCATACAAGACATCGCCGCCTTC c.1680
Q F M L E H G A L S I A A I Q D I A A F p.560
. . . . . . g.178804
AAAATCCAAGCTGTCTACAAAGGGTACAAGGTCAGAAAAGCCTTCCGAGACAGGAAAAAT c.1740
K I Q A V Y K G Y K V R K A F R D R K N p.580
. . . . | 13 . . g.190107
CTCCTCATGAAGCATGAACAGTTGAGAAAAGATGCTGCTGCCAA | AAAGCGAGAGGAAGAA c.1800
L L M K H E Q L R K D A A A K | K R E E E p.600
. . . . . . g.190167
AACAAACGAAAAGAGGCAGAACAGCAAAAAGGAAGGCGGAGCCCAGATTCCTGCAGACCC c.1860
N K R K E A E Q Q K G R R S P D S C R P p.620
. . . . . . g.190227
CAGGCCCTTCCCTGTCTGCCTAGCACCCAGGATGTGCCCAGCAGGCAGAGCCGGGCCCCC c.1920
Q A L P C L P S T Q D V P S R Q S R A P p.640
. . . . . . g.190287
AGCAAGCAGCCTCCTGCTGGCAACGTGGCCCAAGGCCCTGAGCCAAGAGACAGCAGAGGA c.1980
S K Q P P A G N V A Q G P E P R D S R G p.660
. . . . . . g.190347
TCTCCAGGAGGGTCTCTAGGCGGAGCCCTCCAGAAGGAGCAGCATGTTTCCTCAGATTTG c.2040
S P G G S L G G A L Q K E Q H V S S D L p.680
. . | 14 . . . g.198129
CAGGGAACAAACTCCAGAAGGCCAAATG | AAACAGCCAGAGAACATTCTAAAGGCCAATCT c.2100
Q G T N S R R P N E | T A R E H S K G Q S p.700
. . . . . . g.198189
GCTTGTGTCCACTTCAGACCCAATGAAGGCAGTGATGGAAGCAGGCATCCAGGAGTTCCC c.2160
A C V H F R P N E G S D G S R H P G V P p.720
. . . . . . g.198249
TCTGTTGAGAAGTCCAGAGGTGAGACAGCTGGCGATGAGCGGTGTGCAAAGGGGAAAGGC c.2220
S V E K S R G E T A G D E R C A K G K G p.740
. . . . . . g.198309
TTCGTGAAGCAGCCCTCCTGTATCAGGGTGGCTGGGCCTGATGAGAAAGGAGAGGACTCC c.2280
F V K Q P S C I R V A G P D E K G E D S p.760
. . . . . . g.198369
AGGCGGGCAGCTGCAAGCCTTCCACCGCACGATAGCCACTGGAAGCCCAGCAGGCGGCAT c.2340
R R A A A S L P P H D S H W K P S R R H p.780
. . . . . . g.198429
GACACAGAACCCAAGGCCAAATGTGCCCCCCAGAAAAGGCGCACTCAAGAGCTCAGAGGA c.2400
D T E P K A K C A P Q K R R T Q E L R G p.800
. . . . . . g.198489
GGAAGGTGCTCTCCGGCTGGTTCTAGCCGCCCTGGCAGTGCCCGGGGGGAGGCGGTCCAT c.2460
G R C S P A G S S R P G S A R G E A V H p.820
. . . . . . g.198549
GCTGGGCAGAATCCTCCCCACCATCGTACACCAAGAAACAAAGTGACACAAGCCAAGCTC c.2520
A G Q N P P H H R T P R N K V T Q A K L p.840
. . . . . . g.198609
ACAGGAGGGCTCTATTCACATTTGCCACAGAGCACAGAGGAGTTGAGGTCAGGAGCTAGG c.2580
T G G L Y S H L P Q S T E E L R S G A R p.860
. . . . . . g.198669
AGGCTGGAGACATCTACCCTGTCCGAGGACTTTCAGGTATCTAAGGAGACTGATCCAGCA c.2640
R L E T S T L S E D F Q V S K E T D P A p.880
. . . . . . g.198729
CCTGGTCCCCTCTCTGGGCAGAGTGTGAATATTGACCTTCTCCCCGTAGAGCTCCGACTG c.2700
P G P L S G Q S V N I D L L P V E L R L p.900
. . . . . . g.198789
CAGATAATTCAGAGAGAACGAAGGAGGAAGGAGCTGTTTCGCAAAAAGAACAAGGCAGCA c.2760
Q I I Q R E R R R K E L F R K K N K A A p.920
. . | 15 . . . . g.202722
GCAGTCATCCAGCGCGCCTGGCGAAG | CTACCAGCTCAGGAAGCACCTGTCCCACCTTCGG c.2820
A V I Q R A W R S | Y Q L R K H L S H L R p.940
. . . . . . g.202782
CATATGAAGCAGCTTGGAGCTGGAGATGTGGACAGATGGAGGCAAGAGTCTACAGCATTG c.2880
H M K Q L G A G D V D R W R Q E S T A L p.960
. . . . . . g.202842
CTCCTCCAGGTTTGGAGGAAGGAACTGGAACTAAAATTCCCCCAAACCACTGCAGTAAGC c.2940
L L Q V W R K E L E L K F P Q T T A V S p.980
. . . . . . g.202902
AAGGCCCCCAAGAGTCCATCCAAGGGCACCTCAGGCACAAAGTCCACCAAGCACTCAGTG c.3000
K A P K S P S K G T S G T K S T K H S V p.1000
. | 16 . . . . . g.203751
CTTAAGCAAATCTATG | GTTGTTCTCACGAAGGGAAAATACATCATCCTACAAGATCTGTA c.3060
L K Q I Y G | C S H E G K I H H P T R S V p.1020
. . . | 17 . . . g.206368
AAAGCCTCTTCTGTGCTGCGTCTCAACTCAG | TGAGCAACCTACAGTGTATACATCTCCTT c.3120
K A S S V L R L N S V | S N L Q C I H L L p.1040
. . . . . . g.206428
GAGAACAGTGGAAGATCAAAGAACTTTTCTTATAACCTGCAATCAGCTACTCAGCCAAAA c.3180
E N S G R S K N F S Y N L Q S A T Q P K p.1060
. g.206446
AACAAAACAAAACCTTGA c.3198
N K T K P X p.1065
. . . . . . g.206506
ctgcctatggaggaagactgtgttcgggggagctggcatagctagtgcagagttcagatt c.*60
. . . . . . g.206566
ttctgctgataatcttttacaccttgggaaaactttaatatccgtacctgaaggctgatt c.*120
. . . . . . g.206626
cacctaaaaatgtgttaactgaaagaaaatgtcagaatgtttcctttctgctcttacaca c.*180
. . . . . . g.206686
gcattgttttgtcaatcaacacagcctgcactgaaaggacctgcatagactatgtctgtg c.*240
. . . . . . g.206746
caaagtgcctgagtgtctgctttcacctcagtctgtacagttggaaatgagaattcataa c.*300
. . . . . . g.206806
ttaacagcaaaatctaaggaaaactacggctgctgggttgggatttctgccagctagctg c.*360
. . . . . . g.206866
gtactggcttcttgtttcaagagatgaacctaaatgagataggaagcctgtcccatagca c.*420
. . . . . g.206916
gccttcctctcactactttcctggcatctaatgcaacaaacttatcacac c.*470
(downstream sequence)
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