(used for variant description)
(last modified August 30, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_000177.4 in the GSN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering GSN transcript NM_000177.4.
(upstream sequence)
g.36700
a c.-61
. . . . . . g.36760
cttaaggtcggcgacccgaggccgcggctgccgactgggtcccctgccgctgtcgccacc c.-1
. . . . . . g.36820
ATGGCTCCGCACCGCCCCGCGCCCGCGCTGCTTTGCGCGCTGTCCCTGGCGCTGTGCGCG c.60
M A P H R P A P A L L C A L S L A L C A p.20
. . . . . . g.36880
CTGTCGCTGCCCGTCCGCGCGGCCACTGCGTCGCGGGGGGCGTCCCAGGCGGGGGCGCCC c.120
L S L P V R A A T A S R G A S Q A G A P p.40
. . | 02 . . . . g.38897
CAGGGGCGGGTGCCCGAGGCGCGG | CCCAACAGCATGGTGGTGGAACACCCCGAGTTCCTC c.180
Q G R V P E A R | P N S M V V E H P E F L p.60
. . . . . . g.38957
AAGGCAGGGAAGGAGCCTGGCCTGCAGATCTGGCGTGTGGAGAAGTTCGATCTGGTGCCC c.240
K A G K E P G L Q I W R V E K F D L V P p.80
. . . . . . g.39017
GTGCCCACCAACCTTTATGGAGACTTCTTCACGGGCGACGCCTACGTCATCCTGAAGACA c.300
V P T N L Y G D F F T G D A Y V I L K T p.100
. . . . | 03 . g.39820
GTGCAGCTGAGGAACGGAAATCTGCAGTATGACCTCCACTACTGGCTGG | GCAATGAGTGC c.360
V Q L R N G N L Q Y D L H Y W L G | N E C p.120
. . . . . . g.39880
AGCCAGGATGAGAGCGGGGCGGCCGCCATCTTTACCGTGCAGCTGGATGACTACCTGAAC c.420
S Q D E S G A A A I F T V Q L D D Y L N p.140
. . . . . . g.39940
GGCCGGGCCGTGCAGCACCGTGAGGTCCAGGGCTTCGAGTCGGCCACCTTCCTAGGCTAC c.480
G R A V Q H R E V Q G F E S A T F L G Y p.160
. . | 04 . . . . g.47618
TTCAAGTCTGGCCTGAAGTACAAG | AAAGGAGGTGTGGCATCAGGATTCAAGCACGTGGTA c.540
F K S G L K Y K | K G G V A S G F K H V V p.180
. . . . . . g.47678
CCCAACGAGGTGGTGGTGCAGAGACTCTTCCAGGTCAAAGGGCGGCGTGTGGTCCGTGCC c.600
P N E V V V Q R L F Q V K G R R V V R A p.200
. . . . . . g.47738
ACCGAGGTACCTGTGTCCTGGGAGAGCTTCAACAATGGCGACTGCTTCATCCTGGACCTG c.660
T E V P V S W E S F N N G D C F I L D L p.220
| 05 . . . . . . g.49291
GGCAAC | AACATCCACCAGTGGTGTGGTTCCAACAGCAATCGGTATGAAAGACTGAAGGCC c.720
G N | N I H Q W C G S N S N R Y E R L K A p.240
. . . . . . g.49351
ACACAGGTGTCCAAGGGCATCCGGGACAACGAGCGGAGTGGCCGGGCCCGAGTGCACGTG c.780
T Q V S K G I R D N E R S G R A R V H V p.260
. . . | 06 . . . g.50856
TCTGAGGAGGGCACTGAGCCCGAGGCGATGCTCCAG | GTGCTGGGCCCCAAGCCGGCTCTG c.840
S E E G T E P E A M L Q | V L G P K P A L p.280
. . . . . . g.50916
CCTGCAGGTACCGAGGACACCGCCAAGGAGGATGCGGCCAACCGCAAGCTGGCCAAGCTC c.900
P A G T E D T A K E D A A N R K L A K L p.300
| 07 . . . . . . g.54038
TACAAG | GTCTCCAATGGTGCAGGGACCATGTCCGTCTCCCTCGTGGCTGATGAGAACCCC c.960
Y K | V S N G A G T M S V S L V A D E N P p.320
. . . . . . g.54098
TTCGCCCAGGGGGCCCTGAAGTCAGAGGACTGCTTCATCCTGGACCACGGCAAAGATGGG c.1020
F A Q G A L K S E D C F I L D H G K D G p.340
. | 08 . . . . g.55345
AAAATCTTTGTCTGGAAAG | GCAAGCAGGCAAACACGGAGGAGAGGAAGGCTGCCCTCAAA c.1080
K I F V W K G | K Q A N T E E R K A A L K p.360
. . . . | 09 . g.55575
ACAGCCTCTGACTTCATCACCAAGATGGACTACCCCAAGCAGACTCAG | GTCTCGGTCCTT c.1140
T A S D F I T K M D Y P K Q T Q | V S V L p.380
. . . . . . g.55635
CCTGAGGGCGGTGAGACCCCACTGTTCAAGCAGTTCTTCAAGAACTGGCGGGACCCAGAC c.1200
P E G G E T P L F K Q F F K N W R D P D p.400
. . . . . . g.55695
CAGACAGATGGCCTGGGCTTGTCCTACCTTTCCAGCCATATCGCCAACGTGGAGCGGGTG c.1260
Q T D G L G L S Y L S S H I A N V E R V p.420
. . . . . . g.55755
CCCTTCGACGCCGCCACCCTGCACACCTCCACTGCCATGGCCGCCCAGCACGGCATGGAT c.1320
P F D A A T L H T S T A M A A Q H G M D p.440
. . | 10 . . . . g.58202
GACGATGGCACAGGCCAGAAACAG | ATCTGGAGAATCGAAGGTTCCAACAAGGTGCCCGTG c.1380
D D G T G Q K Q | I W R I E G S N K V P V p.460
. . . . . . g.58262
GACCCTGCCACATATGGACAGTTCTATGGAGGCGACAGCTACATCATTCTGTACAACTAC c.1440
D P A T Y G Q F Y G G D S Y I I L Y N Y p.480
. . . | 11 . . g.61474
CGCCATGGTGGCCGCCAGGGGCAGATAATCTATAACTG | GCAGGGTGCCCAGTCTACCCAG c.1500
R H G G R Q G Q I I Y N W | Q G A Q S T Q p.500
. . . . . . g.61534
GATGAGGTCGCTGCATCTGCCATCCTGACTGCTCAGCTGGATGAGGAGCTGGGAGGTACC c.1560
D E V A A S A I L T A Q L D E E L G G T p.520
| 12 . . . . . g.63461
CCTGTCCAG | AGCCGTGTGGTCCAAGGCAAGGAGCCCGCCCACCTCATGAGCCTGTTTGGT c.1620
P V Q | S R V V Q G K E P A H L M S L F G p.540
. . . . . . g.63521
GGGAAGCCCATGATCATCTACAAGGGCGGCACCTCCCGCGAGGGCGGGCAGACAGCCCCT c.1680
G K P M I I Y K G G T S R E G G Q T A P p.560
. . . . . . g.63581
GCCAGCACCCGCCTCTTCCAGGTCCGCGCCAACAGCGCTGGAGCCACCCGGGCTGTTGAG c.1740
A S T R L F Q V R A N S A G A T R A V E p.580
| 13 . . . . . . g.64266
| GTATTGCCTAAGGCTGGTGCACTGAACTCCAACGATGCCTTTGTTCTGAAAACCCCCTCA c.1800
| V L P K A G A L N S N D A F V L K T P S p.600
. . . . . . g.64326
GCCGCCTACCTGTGGGTGGGTACAGGAGCCAGCGAGGCAGAGAAGACGGGGGCCCAGGAG c.1860
A A Y L W V G T G A S E A E K T G A Q E p.620
. . . . . | 14 . g.65794
CTGCTCAGGGTGCTGCGGGCCCAACCTGTGCAGGTGGCAGAAGGCAGCGAGCCAG | ATGGC c.1920
L L R V L R A Q P V Q V A E G S E P D | G p.640
. . . . . . g.65854
TTCTGGGAGGCCCTGGGCGGGAAGGCTGCCTACCGCACATCCCCACGGCTGAAGGACAAG c.1980
F W E A L G G K A A Y R T S P R L K D K p.660
. . . . . . g.65914
AAGATGGATGCCCATCCTCCTCGCCTCTTTGCCTGCTCCAACAAGATTGGACGTTTTGTG c.2040
K M D A H P P R L F A C S N K I G R F V p.680
| 15 . . . . . . g.66196
| ATCGAAGAGGTTCCTGGTGAGCTCATGCAGGAAGACCTGGCAACGGATGACGTCATGCTT c.2100
| I E E V P G E L M Q E D L A T D D V M L p.700
. | 16 . . . . g.68328
CTGGACACCTGGGACCAG | GTCTTTGTCTGGGTTGGAAAGGATTCTCAAGAAGAAGAAAAG c.2160
L D T W D Q | V F V W V G K D S Q E E E K p.720
. | 17 . . . . g.69373
ACAGAAGCCTTGACTTCTG | CTAAGCGGTACATCGAGACGGACCCAGCCAATCGGGATCGG c.2220
T E A L T S A | K R Y I E T D P A N R D R p.740
. . . . . . g.69433
CGGACGCCCATCACCGTGGTGAAGCAAGGCTTTGAGCCTCCCTCCTTTGTGGGCTGGTTC c.2280
R T P I T V V K Q G F E P P S F V G W F p.760
. . . . . . g.69493
CTTGGCTGGGATGATGATTACTGGTCTGTGGACCCCTTGGACAGGGCCATGGCTGAGCTG c.2340
L G W D D D Y W S V D P L D R A M A E L p.780
g.69502
GCTGCCTGA c.2349
A A X p.782
. . . . . . g.69562
ggaggggcagggcccacccatgtcaccggtcagtgccttttggaactgtccttccctcaa c.*60
. . . . . . g.69622
agaggccttagagcgagcagagcagctctgctatgagtgtgtgtgtgtgtgtgtgttgtt c.*120
. . . . . . g.69682
tcttttttttttttttacagtatccaaaaatagccctgcaaaaattcagagtccttgcaa c.*180
. . . . . g.69741
aattgtctaaaatgtcagtgtttgggaaattaaatccaataaaaacattttgaagtgtg c.*239
(downstream sequence)
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