(used for variant description)
(last modified July 18, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_022489.3 in the INF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027684.1, covering INF2 transcript NM_022489.3.
(upstream sequence)
. . g.5023
cgccccgcgcccgccaggagcca c.-121
. . . . . . g.5083
ccgtccgagccttgcggagcgcggcagtgggcgccggctgcccgcagcccctgacccggc c.-61
. . . . . . | 02 g.16760
cccggacggagcgccggccgcaccaccgccctctggccgttgcctcaccgg | ctcggcaag c.-1
. . . . . . g.16820
ATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCA c.60
M S V K E G A Q R K W A A L K E K L G P p.20
. . . . . . g.16880
CAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGG c.120
Q D S D P T E A N L E S A D P E L C I R p.40
. . . . . . g.16940
CTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGC c.180
L L Q M P S V V N Y S G L R K R L E G S p.60
. . . . . . g.17000
GACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCG c.240
D G G W M V Q F L E Q S G L D L L L E A p.80
. . . . . . g.17060
CTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACC c.300
L A R L S G R G V A R I S D A L L Q L T p.100
. . . . . . g.17120
TGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGC c.360
C V S C V R A V M N S R Q G I E Y I L S p.120
. . . | 03 . . . g.18528
AACCAGGGCTACGTGCGCCAGCTCTCCCAGG | CCCTGGACACATCCAACGTGATGGTGAAG c.420
N Q G Y V R Q L S Q A | L D T S N V M V K p.140
. . . . . . g.18588
AAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTG c.480
K Q V F E L L A A L C I Y S P E G H V L p.160
. . | 04. . . . g.18722
ACCCTGGACGCCCTGGACCACTACAAG | ACGGTGTGCAGCCAGCAGTACCGCTTCAGCATT c.540
T L D A L D H Y K | T V C S Q Q Y R F S I p.180
. . . . . . g.18782
GTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTG c.600
V M N E L S G S D N V P Y V V T L L S V p.200
. . . . . . g.18842
ATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAG c.660
I N A V I L G P E D L R A R T Q L R N E p.220
| 05. . . . | 06 . . g.21448
TTTATCG | GGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCG | AGACCTGGAGGATGCCGAC c.720
F I G | L Q L L D V L A R L R | D L E D A D p.240
. . . . . . g.21508
CTGCTGATCCAGCTGGAGGCTTTCGAGGAGGCTAAGGCCGAGGACGAGGAGGAGCTGCTG c.780
L L I Q L E A F E E A K A E D E E E L L p.260
. . . . . . g.21568
CGAGTCTCTGGCGGGGTCGACATGAGCAGCCACCAGGAGGTCTTTGCCTCCCTGTTCCAC c.840
R V S G G V D M S S H Q E V F A S L F H p.280
| 07 . . . . . . g.22361
AAG | GTGAGCTGCTCCCCGGTGTCTGCCCAGCTCCTGTCGGTGCTGCAGGGCCTCCTGCAC c.900
K | V S C S P V S A Q L L S V L Q G L L H p.300
. . . . . . g.22421
CTGGAGCCCACCCTCCGCTCCAGCCAGCTGCTCTGGGAGGCCCTGGAGAGCCTCGTGAAC c.960
L E P T L R S S Q L L W E A L E S L V N p.320
. . | 08 . . . . g.22682
CGGGCCGTGCTCCTGGCCAGCGATG | CCCAGGAATGCACCCTGGAGGAAGTGGTTGAGCGG c.1020
R A V L L A S D A | Q E C T L E E V V E R p.340
. . . . . . g.22742
CTCCTGTCTGTCAAGGGGCGACCCAGACCGAGCCCCCTGGTCAAGGCCCATAAAAGCGTC c.1080
L L S V K G R P R P S P L V K A H K S V p.360
. . . . . . g.22802
CAGGCCAACCTAGACCAGAGCCAGAGGGGCAGCTCCCCGCAAAACACTACAACCCCCAAG c.1140
Q A N L D Q S Q R G S S P Q N T T T P K p.380
. . . . . . g.22862
CCCAGCGTGGAGGGCCAGCAGCCAGCAGCAGCTGCTGCCTGCGAGCCCGTGGACCACGCC c.1200
P S V E G Q Q P A A A A A C E P V D H A p.400
. . . . . . g.22922
CAGAGTGAGAGCATCCTGAAAGTTTCGCAGCCCAGAGCCCTGGAGCAGCAGGCGTCCACC c.1260
Q S E S I L K V S Q P R A L E Q Q A S T p.420
. . . . . . g.22982
CCACCCCCACCCCCACCCCCACCCCTGCTCCCTGGTTCCAGTGCCGAGCCCCCTCCCCCT c.1320
P P P P P P P P L L P G S S A E P P P P p.440
. . . . . . g.23042
CCCCCACCACCCCCCCTGCCCAGTGTGGGGGCTAAGGCCCTCCCAACAGCACCCCCGCCC c.1380
P P P P P L P S V G A K A L P T A P P P p.460
. . . . . . g.23102
CCACCCCTGCCAGGCCTGGGGGCCATGGCCCCCCCAGCACCTCCTCTACCACCACCCCTG c.1440
P P L P G L G A M A P P A P P L P P P L p.480
. . . . . . g.23162
CCAGGCTCCTGTGAGTTCCTGCCCCCACCACCTCCACCACTCCCGGGCTTGGGATGCCCG c.1500
P G S C E F L P P P P P P L P G L G C P p.500
. . . . . . g.23222
CCCCCACCCCCACCCCTGCTGCCTGGTATGGGCTGGGGCCCTCCTCCACCCCCACCTCCA c.1560
P P P P P L L P G M G W G P P P P P P P p.520
. . . . . . g.23282
CTACTGCCCTGCACCTGCAGCCCCCCCGTGGCGGGAGGCATGGAGGAGGTCATCGTGGCC c.1620
L L P C T C S P P V A G G M E E V I V A p.540
. . . . . . g.23342
CAGGTGGACCATGGCTTGGGCTCAGCATGGGTCCCCAGCCATCGGCGGGTGAACCCACCC c.1680
Q V D H G L G S A W V P S H R R V N P P p.560
. . . . . | 09 . g.23835
ACACTGCGCATGAAGAAGCTGAACTGGCAGAAGCTGCCATCCAACGTGGCACGTG | AGCAC c.1740
T L R M K K L N W Q K L P S N V A R E | H p.580
. . . . . . g.23895
AACTCTATGTGGGCGTCCCTGAGCAGCCCCGACGCCGAGGCTGTGGAGCCCGACTTCTCC c.1800
N S M W A S L S S P D A E A V E P D F S p.600
. . . . . . g.23955
AGCATCGAGCGACTATTCTCCTTCCCTGCAGCCAAGCCCAAGGAGCCCACCATGGTGGCC c.1860
S I E R L F S F P A A K P K E P T M V A p.620
. . | 10. . . . g.24098
CCCCGGGCCAGGAAGGAGCCCAAGGAG | ATCACTTTCCTCGATGCCAAGAAGAGCCTGAAC c.1920
P R A R K E P K E | I T F L D A K K S L N p.640
. . | 11 . . . g.24706
CTCAACATCTTCCTGAAGCAATTTAAGTG | CTCCAACGAGGAGGTCGCTGCTATGATCCGG c.1980
L N I F L K Q F K C | S N E E V A A M I R p.660
. . . . . . g.24766
GCTGGAGATACCACCAAGTTTGATGTGGAGGTTCTCAAACAACTCCTTAAGCTCCTTCCC c.2040
A G D T T K F D V E V L K Q L L K L L P p.680
. | 12 . . . . . g.25062
GAGAAGCACGAG | ATTGAAAACCTGCGGGCATTCACAGAGGAGCGAGCCAAGCTGGCCAGC c.2100
E K H E | I E N L R A F T E E R A K L A S p.700
. . . | 13 . . g.25504
GCCGACCACTTCTACCTCCTCCTGCTGGCCATTCCCTG | CTACCAGCTGCGAATCGAGTGC c.2160
A D H F Y L L L L A I P C | Y Q L R I E C p.720
. . . . . . g.25564
ATGCTGCTGTGTGAGGGCGCGGCCGCCGTGCTGGACATGGTGCGGCCCAAGGCCCAGCTG c.2220
M L L C E G A A A V L D M V R P K A Q L p.740
. | 14 . . . . g.26372
GTGCTGGCTGCCTGCGAAA | GCCTGCTCACCAGCCGCCAGCTGCCCATCTTCTGCCAGCTG c.2280
V L A A C E S | L L T S R Q L P I F C Q L p.760
. . . | 15 . . . g.26503
ATCCTGAGAATTGGGAACTTCCTCAACTAC | GGCAGCCACACCGGTGACGCCGACGGCTTC c.2340
I L R I G N F L N Y | G S H T G D A D G F p.780
. . . . . . g.26563
AAGATCAGCACATTGCTGAAGCTCACGGAGACCAAGTCCCAGCAGAACCGCGTGACGCTG c.2400
K I S T L L K L T E T K S Q Q N R V T L p.800
. | 16 . . . . g.27065
CTGCACCACGTGCTGGAG | GAAGCGGAAAAGAGCCACCCCGACCTCCTGCAGCTGCCCCGG c.2460
L H H V L E | E A E K S H P D L L Q L P R p.820
. . | 17 . . . g.27858
GACCTGGAACAGCCCTCGCAAGCAGCAGG | GATCAACCTGGAGATCATCCGCTCAGAGGCC c.2520
D L E Q P S Q A A G | I N L E I I R S E A p.840
. . . . . . g.27918
AGCTCCAACCTGAAGAAGCTTCTGGAGACCGAGCGGAAGGTGTCTGCCTCCGTGGCCGAG c.2580
S S N L K K L L E T E R K V S A S V A E p.860
. . . | 18 . . . g.28252
GTCCAGGAGCAGTACACCGAGCGCCTCCAG | GCCAGCATCTCGGCCTTCCGGGCACTGGAT c.2640
V Q E Q Y T E R L Q | A S I S A F R A L D p.880
. . . . . . g.28312
GAGCTGTTTGAGGCCATCGAGCAGAAGCAACGGGAGCTGGCCGACTACCTGTGTGAGGAC c.2700
E L F E A I E Q K Q R E L A D Y L C E D p.900
. . . . . . g.28372
GCCCAGCAGCTGTCCCTGGAGGACACGTTCAGCACCATGAAGGCTTTCCGGGACCTTTTC c.2760
A Q Q L S L E D T F S T M K A F R D L F p.920
. | 19 . . . . . g.28646
CTCCGCGCCCTGAAG | GAGAACAAGGACCGGAAGGAGCAGGCGGCGAAGGCAGAGAGGAGG c.2820
L R A L K | E N K D R K E Q A A K A E R R p.940
. . . . . | 20 g.28841
AAGCAGCAGCTGGCGGAGGAGGAGGCGCGGCGGCCTCGGGGAGAGGACGGGAAGCCTG | TC c.2880
K Q Q L A E E E A R R P R G E D G K P V | p.960
. . . . . . g.28901
AGGAAGGGGCCCGGGAAGCAGGAGGAGGTGTGTGTCATCGATGCCCTGCTGGCTGACATC c.2940
R K G P G K Q E E V C V I D A L L A D I p.980
. . . . . . g.28961
AGGAAGGGCTTCCAGCTGCGGAAGACAGCCCGGGGCCGCGGGGACACCGACGGGGGCAGC c.3000
R K G F Q L R K T A R G R G D T D G G S p.1000
. . . . | 21 . . g.29617
AAGGCAGCCTCCATGGATCCCCCAAGAGCCACAGAGCCTG | TGGCCACCAGTAACCCTGCA c.3060
K A A S M D P P R A T E P V | A T S N P A p.1020
. . . . . . g.29677
GGAGATCCCGTGGGCAGCACGCGCTGTCCCGCCTCTGAGCCCGGCCTTGATGCTACAACA c.3120
G D P V G S T R C P A S E P G L D A T T p.1040
. . . . . . g.29737
GCCAGCGAGTCCCGGGGCTGGGACCTTGTAGACGCCGTGACCCCCGGCCCTCAGCCCACC c.3180
A S E S R G W D L V D A V T P G P Q P T p.1060
. . . . . . g.29797
CTGGAGCAGTTGGAGGAGGGTGGTCCACGGCCCCTGGAGAGGCGTTCTTCCTGGTATGTG c.3240
L E Q L E E G G P R P L E R R S S W Y V p.1080
. . . . . . g.29857
GATGCCAGCGATGTCCTAACCACTGAGGATCCCCAGTGCCCCCAGCCCTTGGAGGGGGCC c.3300
D A S D V L T T E D P Q C P Q P L E G A p.1100
. . . . . . g.29917
TGGCCGGTGACTCTGGGAGATGCTCAGGCCCTGAAGCCCCTCAAGTTCTCCAGCAACCAG c.3360
W P V T L G D A Q A L K P L K F S S N Q p.1120
. . . . . . g.29977
CCCCCTGCAGCCGGAAGTTCAAGGCAAGATGCCAAGGATCCCACGTCCTTGCTGGGCGTC c.3420
P P A A G S S R Q D A K D P T S L L G V p.1140
. . . . . . g.30037
CTCCAGGCCGAGGCCGACAGCACAAGTGAGGGGCTGGAGGACGCTGTCCACAGCCGTGGT c.3480
L Q A E A D S T S E G L E D A V H S R G p.1160
. . . . . . g.30097
GCCAGACCCCCTGCAGCAGGCCCAGGTGGGGATGAGGACGAGGACGAGGAGGACACGGCC c.3540
A R P P A A G P G G D E D E D E E D T A p.1180
. . . . . . g.30157
CCAGAGTCCGCACTGGACACATCCCTGGACAAGTCCTTCTCCGAGGATGCGGTGACCGAC c.3600
P E S A L D T S L D K S F S E D A V T D p.1200
. . . . . . g.30217
TCCTCGGGGTCGGGCACACTCCCCAGGGCCCGGGGCCGGGCCTCAAAGGGGACCGGGAAG c.3660
S S G S G T L P R A R G R A S K G T G K p.1220
. . . | 22 . . . g.30704
CGAAGGAAGAAGCGTCCCTCCAGGAGCCAGGAAG | AGGTTCCCCCTGATTCTGATGATAAT c.3720
R R K K R P S R S Q E E | V P P D S D D N p.1240
. . . g.30734
AAAACAAAGAAACTGTGTGTGATCCAGTAA | c.3751
K T K K L C V I Q X p.1249
| 23 . . . . . . g.34248
g | gcctcaggcccaggcccaaggccaagtgagagagcccaggccacaggacatgctgccat c.*60
. . . . . . g.34308
tctgccaagagaggctcttctgggggccaggctgggactgggccccggaaaccaaaactc c.*120
. . . . . . g.34368
cgtgccttacccagccggggccctcctggagccttcttggggtgttgtggctgggaaccc c.*180
. . . . . . g.34428
gacaggcaccagtgccctgccaggcctggtgccctcctggaccgcctgcacgtgccagcc c.*240
. . . . . . g.34488
tcccacctgcttcctaaaggcaaccctggcccacacccgcatgcgcccggtgcagcctgc c.*300
. . . . . . g.34548
caagggccagtcggggggtgctgcgtcctgccagtgtccaccacagctctgcctgccctt c.*360
. . . . . . g.34608
cagcccagcaaggtttaatcaaaatgcaatgctttgcaagtctttactgcttggaggtgg c.*420
. . . . . . g.34668
ctgagttgggggccctgggcaggggtaagctggcaggcagtgccatggcaggccagggtc c.*480
. . . . . . g.34728
ccctcccatggggtctggcccccgttccagcatgtccagcccctgaagttggagtggggg c.*540
. . . . . . g.34788
gcggtctgcctttgctgccactgccaggcctctgccctgcagctgaaacttggccatcac c.*600
. . . . . . g.34848
atcaacagaaaacccctcccagtgccagctgcccagcgtgggcaggccctggggacaata c.*660
. . . . . . g.34908
caggtccacctgaggggctgcagggtgacacccagcagccgctgccccctcactgcccac c.*720
. . . . . . g.34968
ccagcgagggcagcctacccgagcctgccccctgccaggtgtgtgccctgaggctggcgg c.*780
. . . g.35005
ctggatgcgtggccaataaaaagcagacctagcccgg c.*817
(downstream sequence)
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