(used for variant description)
(last modified October 31, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_014905.4 in the GLS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering GLS transcript NM_014905.4.
(upstream sequence)
. . g.5024
agtgcggagccttaggcggagcga c.-241
. . . . . . g.5084
agagaaccggtcgcggcaatcctagcgcgcagcagcagcagcagcagcagcagcagcagc c.-181
. . . . . . g.5144
agcagcagcagcagcacccgcatccgctgcgggagtccgagccggaaccacacccaagta c.-121
. . . . . . g.5204
gctgccctttcctcttctgtcatctcaccgccccaccacagaccgcgttccccgaggaaa c.-61
. . . . . . g.5264
ccggccgcccacgcccggagcatcctcccctgttgagcgggcgctgacggacccggcggc c.-1
. . . . . . g.5324
ATGATGCGGCTGCGAGGCTCGGGGATGCTGCGGGACCTGCTCCTGCGGTCGCCCGCCGGC c.60
M M R L R G S G M L R D L L L R S P A G p.20
. . . . . . g.5384
GTGAGCGCGACTCTGCGGCGGGCACAGCCCTTGGTCACCCTGTGCCGGCGTCCCCGAGGC c.120
V S A T L R R A Q P L V T L C R R P R G p.40
. . . . . . g.5444
GGGGGACGGCCGGCCGCGGGCCCGGCTGCCGCCGCGCGACTCCACCCGTGGTGGGGCGGG c.180
G G R P A A G P A A A A R L H P W W G G p.60
. . . . . . g.5504
GGCGGCTGGCCGGCGGAGCCCCTCGCGCGGGGCCTGTCCAGCTCTCCTTCGGAGATCTTG c.240
G G W P A E P L A R G L S S S P S E I L p.80
. . . . . . g.5564
CAGGAGCTGGGCAAGGGGAGCACGCATCCGCAGCCCGGGGTGTCGCCACCCGCTGCCCCG c.300
Q E L G K G S T H P Q P G V S P P A A P p.100
. . . . . . g.5624
GCGGCGCCCGGCCCCAAGGACGGCCCCGGGGAGACGGACGCGTTTGGCAACAGCGAGGGC c.360
A A P G P K D G P G E T D A F G N S E G p.120
. . | 02 . . . . g.19365
AAAGAGCTGGTGGCCTCAGGTGAAAA | TAAAATAAAACAGGGTCTGTTACCTAGCTTGGAA c.420
K E L V A S G E N | K I K Q G L L P S L E p.140
. . . . . . g.19425
GATTTGCTGTTCTATACAATTGCTGAAGGACAAGAGAAAATACCTGTTCATAAATTTATT c.480
D L L F Y T I A E G Q E K I P V H K F I p.160
| 03 . . . . . . g.19840
ACA | GCACTCAAATCTACAGGATTGCGAACGTCTGATCCCAGGTTGAAAGAGTGTATGGAT c.540
T | A L K S T G L R T S D P R L K E C M D p.180
. . . . . . g.19900
ATGTTAAGATTAACTCTTCAAACAACATCAGATGGTGTCATGCTAGACAAAGATCTTTTT c.600
M L R L T L Q T T S D G V M L D K D L F p.200
| 04 . . . . . . g.24798
AAAAA | ATGTGTTCAGAGCAACATTGTTTTGTTGACACAAGCATTTAGAAGAAAGTTTGTG c.660
K K | C V Q S N I V L L T Q A F R R K F V p.220
. . . . . . g.24858
ATTCCTGACTTTATGTCTTTTACCTCACACATTGATGAGTTATATGAAAGTGCTAAAAAG c.720
I P D F M S F T S H I D E L Y E S A K K p.240
. | 05 . . . . . g.26171
CAGTCTGGAGGAAAG | GTTGCAGATTATATTCCTCAACTGGCCAAATTCAGTCCCGATTTG c.780
Q S G G K | V A D Y I P Q L A K F S P D L p.260
. . . | 06 . . . g.29208
TGGGGTGTGTCTGTTTGTACAGTAGATGGACAGAG | GCATTCTACTGGAGATACCAAAGTT c.840
W G V S V C T V D G Q R | H S T G D T K V p.280
. . . . . . g.29268
CCCTTCTGTCTTCAGTCCTGTGTAAAACCTTTGAAATATGCCATTGCTGTTAATGATCTT c.900
P F C L Q S C V K P L K Y A I A V N D L p.300
. . . . . . g.29328
GGAACTGAATATGTGCATCGATATGTTGGAAAAGAGCCGAGTGGACTAAGATTCAACAAA c.960
G T E Y V H R Y V G K E P S G L R F N K p.320
. | 07 . . . . g.34483
CTATTTTTGAATGAAGATG | ATAAACCACATAATCCTATGGTAAATGCTGGAGCAATTGTT c.1020
L F L N E D D | K P H N P M V N A G A I V p.340
. | 08 . . . | 09 . g.45333
GTGACTTCACTAATAAAG | CAAGGAGTAAATAATGCTGAAAAATTTGACTAT | GTCATGCAG c.1080
V T S L I K | Q G V N N A E K F D Y | V M Q p.360
. . . . . | 10 . g.48106
TTTTTGAATAAGATGGCTGGTAATGAATATGTTGGATTCAGTAATGCAAC | GTTTCAGTCT c.1140
F L N K M A G N E Y V G F S N A T | F Q S p.380
. . . . . | 11. g.48725
GAAAGAGAAAGTGGAGATCGAAATTTTGCAATAGGATATTACTTAAAAGAAAAGAAG | TGT c.1200
E R E S G D R N F A I G Y Y L K E K K | C p.400
. . . . | 12 . g.51497
TTTCCAGAAGGCACAGACATGGTTGGTATATTAGACTTCTACTTCCAG | CTGTGCTCCATT c.1260
F P E G T D M V G I L D F Y F Q | L C S I p.420
. . . . . . g.51557
GAAGTGACTTGTGAATCAGCCAGTGTGATGGCTGCGACACTGGCTAATGGTGGTTTCTGC c.1320
E V T C E S A S V M A A T L A N G G F C p.440
. . . . . . g.51617
CCAATTACTGGTGAAAGAGTACTGAGCCCTGAAGCAGTTCGAAATACATTGAGTTTGATG c.1380
P I T G E R V L S P E A V R N T L S L M p.460
. . . . | 13 . . g.54631
CATTCCTGTGGCATGTATGACTTCTCAGGGCAGTTTGCTTTCCAT | GTTGGTCTTCCTGCA c.1440
H S C G M Y D F S G Q F A F H | V G L P A p.480
. . . . . . g.54691
AAATCTGGAGTTGCTGGGGGCATTCTTTTAGTTGTCCCCAATGTTATGGGTATGATGTGC c.1500
K S G V A G G I L L V V P N V M G M M C p.500
. . . . . | 14. g.55727
TGGTCTCCTCCTCTGGATAAGATGGGCAACAGTGTTAAGGGAATTCACTTTTGTCAC | GAT c.1560
W S P P L D K M G N S V K G I H F C H | D p.520
. . . . . . g.55787
CTTGTTTCTCTGTGTAATTTCCATAACTATGATAATTTGAGACACTTTGCAAAAAAACTT c.1620
L V S L C N F H N Y D N L R H F A K K L p.540
. . . | 15 . . . g.77774
GATCCTCGAAGAGAAGGTGGTGATCAAAGG | GTAAAGTCAGTGATAAATCTTTTGTTTGCT c.1680
D P R R E G G D Q R | V K S V I N L L F A p.560
. . . | 16 . . . g.78791
GCATATACTGGAGATGTGTCTGCACTTCGAAG | ATTTGCTTTGTCAGCTATGGACATGGAA c.1740
A Y T G D V S A L R R | F A L S A M D M E p.580
. . . . | 17 . g.78945
CAGCGGGACTATGATTCTAGAACAGCACTCCATGTAGCTGCTGCAGAGG | GTCATGTTGAA c.1800
Q R D Y D S R T A L H V A A A E G | H V E p.600
. . . . . | 18 . g.87016
GTTGTTAAATTTTTGCTGGAAGCCTGCAAAGTAAACCCTTTCCCCAAGGACAG | GTGGAAT c.1860
V V K F L L E A C K V N P F P K D R | W N p.620
. . . . . . g.87076
AACACTCCCATGGATGAAGCACTGCACTTTGGACACCATGATGTATTTAAAATTCTCCAA c.1920
N T P M D E A L H F G H H D V F K I L Q p.640
. . . . . . g.87136
GAATACCAAGTCCAGTACACACCTCAAGGAGATTCTGACAACGGGAAGGAAAATCAAACC c.1980
E Y Q V Q Y T P Q G D S D N G K E N Q T p.660
. . . g.87166
GTCCATAAGAATCTTGATGGATTGTTGTAA c.2010
V H K N L D G L L X p.669
. . . . . . g.87226
tggtctcaaatcccaagatttaaatcacttacctatttaattgtggaaaatgattatgaa c.*60
. . . . . . g.87286
gaacatgtgtatttctatctggtagtgatgtatattttacatttgtcatttcagtgttac c.*120
. . . . . . g.87346
tggagttttcttcattgtgcacacaggacaaatctgatctctttgggaaaaaatagaaat c.*180
. . . . . . g.87406
aaaacaatctccctccataatgtgagcaatattacctcgtgcattgtataatttgatgta c.*240
. . . . . . g.87466
aaagaaatagttaccaatgctagcttgtgtggtcttccatgatttatttgtgttttgtga c.*300
. . . . . . g.87526
attttcaatttatggtgatgatctgctgatatgcatttataaagtaagctctgttgtaca c.*360
. . . . . . g.87586
gtctgtccaaatgggtcaaggttgcctttagaagcaaatagtgtgattttcaagacttca c.*420
. . . . . . g.87646
aatacaaatttagtttaagtgtttgaacaactatatgcacttacggttgtgtgtttaaaa c.*480
. . . . . . g.87706
tgtctctctcaccccctagcttcatgatgtgactcttaaaaaactataatagttaacaac c.*540
. . . . . . g.87766
tgttagtaagatagaccaattctgattagactttatcagggaatctgtttaagatatgtt c.*600
. . . . . . g.87826
tggtgaccaaaacgtatgtgtgaatgtagttataatgcttttgaaaaattttcctttttc c.*660
. . . . . . g.87886
tatatccccttagtccagcctctcttctcagacatttagctatctgcctctttcctttag c.*720
. . . . . . g.87946
ctgggaaagtgagagctggcatactatgcagtttttatgttttccatagtaagtcagaaa c.*780
. . . . . . g.88006
atgcctcctatttctggcatcagaactttgccatttgtctacagaagacgaaccagagac c.*840
. . . . . . g.88066
aaaattactaagtataaattagtcaagtttatcagtctaaaaaacgaagggatgtgcaac c.*900
. . . . . . g.88126
tgcagctctttaagaagttttttttttttagcttctagggtaaagataaattcagaaatg c.*960
. . . . . . g.88186
ctctaagctaccaaagttattctgaaagtatgggaactgctacaactaacaaacatttgt c.*1020
. . . . . . g.88246
ttccaagcctgtcattaagagtctgcatcaagagatttgtcctccttgggggaccactgg c.*1080
. . . . . . g.88306
atcattccagatttcttgtgatttttctattgtgtaattcttggtgggctctgtagttta c.*1140
. . . . . . g.88366
ataataagaaaaaggccatttcattttaaattgtgacctataattctttgtcttgggttg c.*1200
. . . . . . g.88426
gtaattcaggattcatttggaaagtgggtaaaaggggcttcaaaaaacggatagaacagg c.*1260
. . . . . . g.88486
attttctaggagttacacatacattttatcctgtcatacctcgagataaagtggcatgtt c.*1320
. . . . . . g.88546
agtgaggagttctgatattaagcacacacacacatgcacacaaatggacttctctgaagc c.*1380
. . . . . . g.88606
tgtgtttagtgaaatgagctcaagtacatgaatgttagttgttatcacatacagcaaatt c.*1440
. . . . . . g.88666
cctttttttttctttttctatgagcacactctgctgcttctaaactttacatgcctgatg c.*1500
. . . . . . g.88726
gcaccttactccagcagcctccaggtgctttcattttcacttccagtctaagccagtggc c.*1560
. . . . . . g.88786
tcctgccactgccctcccattacctagatggcacctcctttggtgaaaccacggccaatg c.*1620
. . . . . . g.88846
ttccttagctgcaccaggcccgaagctgttcccatgcttgagcttccatggggaggatgc c.*1680
. . . . . . g.88906
tgagtgagcagtttcctaccccgtggatctagcaagccatggagacaggtagcatttgta c.*1740
. . . . . . g.88966
agatgctgcacaggagcagcattatccccaaagatattacagggtagacacgttttaact c.*1800
. . . . . . g.89026
gaaatcaatcaagataactttattcaaagagcagcccgctttgtgtgactaaaatgaaac c.*1860
. . . . . . g.89086
aagacagttgaattgtgtgacttgaagattaccaatgattttgaggcttttctataataa c.*1920
. . . . . . g.89146
aaagaggttctaaccattatttgggaacaaagagagttttcatcttttttcagatcaaaa c.*1980
. . . . . . g.89206
ccattctgtaaaatctttgttgtttaattaaatgtgccgttatttacccctgatgttatt c.*2040
. . . . . . g.89266
tatgactatgtgccgattcctgctcgggctgtttgctgttggctggtaataatatatttg c.*2100
. . . . . . g.89326
atttaaatgctgttgactgtgctattaactgctgccgtcagtaaactccaaagatctttt c.*2160
. . . . . . g.89386
tgttttggctttagtatcatatgtgctttttctgtatcctgagcgctctatatgatcatg c.*2220
. . . . . . g.89446
ttaatttaaagctttatacacattgttgtttttgctggtctcatctttggtaatatgcta c.*2280
. . . . . . g.89506
taccccactgctgcccgacactgccctttagctgcagagctggattagctgttgaccatt c.*2340
. . . . . . g.89566
tgatgctgttgtctgtctggcagggactgaatgacctgatgtcagatttagattcttcct c.*2400
. . . . . . g.89626
ggggattacacagctatgaatgtatttgcttctaaaacctcccaaagtgaatctaatctt c.*2460
. . . . . . g.89686
aaaactacaagttgtaagtattctgaaattgggaaacatttattttaaatgcaatcaggt c.*2520
. . . . g.89732
agtgttgctttttacagcataataaatatatgtatcaaaaaaaaaa c.*2566
(downstream sequence)
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