(used for variant description)
(last modified January 23, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000043.4 in the FAS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering FAS transcript NM_000043.4.
(upstream sequence)
. . . . g.5046
cctacccgcgcgcaggccaagttgctgaatcaatggagccctcccc c.-301
. . . . . . g.5106
aacccgggcgttccccagcgaggcttccttcccatcctcctgaccaccggggcttttcgt c.-241
. . . . . . g.5166
gagctcgtctctgatctcgcgcaagagtgacacacaggtgttcaaagacgcttctgggga c.-181
. . . . . . g.5226
gtgagggaagcggtttacgagtgacttggctggagcctcaggggcgggcactggcacgga c.-121
. . . . . . g.5286
acacaccctgaggccagccctggctgcccaggcggagctgcctcttctcccgcgggttgg c.-61
. . . . . . g.5346
tggacccgctcagtacggagttggggaagctctttcacttcggaggattgctcaacaacc c.-1
. . . | 02 . . . g.17528
ATGCTGGGCATCTGGACCCTCCTACCTCTG | GTTCTTACGTCTGTTGCTAGATTATCGTCC c.60
M L G I W T L L P L | V L T S V A R L S S p.20
. . . . . . g.17588
AAAAGTGTTAATGCCCAAGTGACTGACATCAACTCCAAGGGATTGGAATTGAGGAAGACT c.120
K S V N A Q V T D I N S K G L E L R K T p.40
. . . . . . g.17648
GTTACTACAGTTGAGACTCAGAACTTGGAAGGCCTGCATCATGATGGCCAATTCTGCCAT c.180
V T T V E T Q N L E G L H H D G Q F C H p.60
. | 03 . . . . . g.22213
AAGCCCTGTCCTCCAG | GTGAAAGGAAAGCTAGGGACTGCACAGTCAATGGGGATGAACCA c.240
K P C P P G | E R K A R D C T V N G D E P p.80
. . . . . . g.22273
GACTGCGTGCCCTGCCAAGAAGGGAAGGAGTACACAGACAAAGCCCATTTTTCTTCCAAA c.300
D C V P C Q E G K E Y T D K A H F S S K p.100
. . . | 04 . . . g.23384
TGCAGAAGATGTAGATTGTGTGATGAAGGACATG | GCTTAGAAGTGGAAATAAACTGCACC c.360
C R R C R L C D E G H G | L E V E I N C T p.120
. . . . . . g.23444
CGGACCCAGAATACCAAGTGCAGATGTAAACCAAACTTTTTTTGTAACTCTACTGTATGT c.420
R T Q N T K C R C K P N F F C N S T V C p.140
. . | 05 . . . . g.25045
GAACACTGTGACCCTTGCACCAA | ATGTGAACATGGAATCATCAAGGAATGCACACTCACC c.480
E H C D P C T K | C E H G I I K E C T L T p.160
. . | 06 . . . . g.25257
AGCAACACCAAGTGCAAAGAGGAAG | GATCCAGATCTAACTTGGGGTGGCTTTGTCTTCTT c.540
S N T K C K E E G | S R S N L G W L C L L p.180
. . | 07 . . . g.26500
CTTTTGCCAATTCCACTAATTGTTTGGG | TGAAGAGAAAGGAAGTACAGAAAACATGCAGA c.600
L L P I P L I V W V | K R K E V Q K T C R p.200
. . . . . | 08 . g.27821
AAGCACAGAAAGGAAAACCAAGGTTCTCATGAATCTCCAACTTTAAATCCT | GAAACAGTG c.660
K H R K E N Q G S H E S P T L N P | E T V p.220
. | 09 . . . . . g.28632
GCAATAAATTTATCTG | ATGTTGACTTGAGTAAATATATCACCACTATTGCTGGAGTCATG c.720
A I N L S D | V D L S K Y I T T I A G V M p.240
. . . . . . g.28692
ACACTAAGTCAAGTTAAAGGCTTTGTTCGAAAGAATGGTGTCAATGAAGCCAAAATAGAT c.780
T L S Q V K G F V R K N G V N E A K I D p.260
. . . . . . g.28752
GAGATCAAGAATGACAATGTCCAAGACACAGCAGAACAGAAAGTTCAACTGCTTCGTAAT c.840
E I K N D N V Q D T A E Q K V Q L L R N p.280
. . . . . . g.28812
TGGCATCAACTTCATGGAAAGAAAGAAGCGTATGACACATTGATTAAAGATCTCAAAAAA c.900
W H Q L H G K K E A Y D T L I K D L K K p.300
. . . . . . g.28872
GCCAATCTTTGTACTCTTGCAGAGAAAATTCAGACTATCATCCTCAAGGACATTACTAGT c.960
A N L C T L A E K I Q T I I L K D I T S p.320
. . . . g.28920
GACTCAGAAAATTCAAACTTCAGAAATGAAATCCAAAGCTTGGTCTAG c.1008
D S E N S N F R N E I Q S L V X p.335
. . . . . . g.28980
agtgaaaaacaacaaattcagttctgagtatatgcaattagtgtttgaaaagattcttaa c.*60
. . . . . . g.29040
tagctggctgtaaatactgcttggttttttactgggtacattttatcatttattagcgct c.*120
. . . . . . g.29100
gaagagccaacatatttgtagatttttaatatctcatgattctgcctccaaggatgttta c.*180
. . . . . . g.29160
aaatctagttgggaaaacaaacttcatcaagagtaaatgcagtggcatgctaagtaccca c.*240
. . . . . . g.29220
aataggagtgtatgcagaggatgaaagattaagattatgctctggcatctaacatatgat c.*300
. . . . . . g.29280
tctgtagtatgaatgtaatcagtgtatgttagtacaaatgtctatccacaggctaacccc c.*360
. . . . . . g.29340
actctatgaatcaatagaagaagctatgaccttttgctgaaatatcagttactgaacagg c.*420
. . . . . . g.29400
caggccactttgcctctaaattacctctgataattctagagattttaccatatttctaaa c.*480
. . . . . . g.29460
ctttgtttataactctgagaagatcatatttatgtaaagtatatgtatttgagtgcagaa c.*540
. . . . . . g.29520
tttaaataaggctctacctcaaagacctttgcacagtttattggtgtcatattatacaat c.*600
. . . . . . g.29580
atttcaattgtgaattcacatagaaaacattaaattataatgtttgactattatatatgt c.*660
. . . . . . g.29640
gtatgcattttactggctcaaaactacctacttctttctcaggcatcaaaagcattttga c.*720
. . . . . . g.29700
gcaggagagtattactagagctttgccacctctccatttttgccttggtgctcatcttaa c.*780
. . . . . . g.29760
tggcctaatgcacccccaaacatggaaatatcaccaaaaaatacttaatagtccaccaaa c.*840
. . . . . . g.29820
aggcaagactgcccttagaaattctagcctggtttggagatactaactgctctcagagaa c.*900
. . . . . . g.29880
agtagctttgtgacatgtcatgaacccatgtttgcaatcaaagatgataaaatagattct c.*960
. . . . . . g.29940
tatttttcccccacccccgaaaatgttcaataatgtcccatgtaaaacctgctacaaatg c.*1020
. . . . . . g.30000
gcagcttatacatagcaatggtaaaatcatcatctggatttaggaattgctcttgtcata c.*1080
. . . . . . g.30060
cccccaagtttctaagatttaagattctccttactactatcctacgtttaaatatctttg c.*1140
. . . . . . g.30120
aaagtttgtattaaatgtgaattttaagaaataatatttatatttctgtaaatgtaaact c.*1200
. . . . . . g.30180
gtgaagatagttataaactgaagcagatacctggaaccacctaaagaacttccatttatg c.*1260
. . . . . . g.30240
gaggatttttttgccccttgtgtttggaattataaaatataggtaaaagtacgtaattaa c.*1320
. g.30255
ataatgtttttggta c.*1335
(downstream sequence)
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