(used for variant description)
(last modified December 24, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_021814.4 in the ELOVL5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering ELOVL5 transcript NM_021814.4.
(upstream sequence)
. g.5011
aaaaaaatttc c.-361
. . . . . . g.5071
ccagagacacgtggaaccgaggggccaaccccggcctaggctctccaccgcatcggattc c.-301
. . . . . . g.5131
tggaatttacgatcacgaaagttctattgtcccgcgattggctcccgggccgcatgacat c.-241
. . . . . . g.5191
catagcgcttgattcatccttcgggtcccgattggctggccgcgccattgtgacgtcacg c.-181
. . . . . . g.5251
gtcagcccacgttctgattgtagatagccggcgccttcctcttcccatcgcgcgggtcct c.-121
. . . . . . g.5311
agccaccggtgtctccttctacatccgcctctgcgccggctgccacccgcgctccctccg c.-61
. . . . . . | 02 g.58480
ccgccgccgccttgctgctgctcaaagctgctgccgccccttgggctaaaag | gttttcaa c.-1
. . . . . | 03 g.62218
ATGGAACATTTTGATGCATCACTTAGTACCTATTTCAAGGCATTGCTAGGCCCTCGAG | AT c.60
M E H F D A S L S T Y F K A L L G P R D | p.20
. . . . . . g.62278
ACTAGAGTAAAAGGATGGTTTCTTCTGGACAATTATATACCCACATTTATCTGCTCTGTC c.120
T R V K G W F L L D N Y I P T F I C S V p.40
. . . . . . g.62338
ATATATTTACTAATTGTATGGCTGGGACCAAAATACATGAGGAATAAACAGCCATTCTCT c.180
I Y L L I V W L G P K Y M R N K Q P F S p.60
. . . . . . g.62398
TGCCGGGGGATTTTAGTGGTGTATAACCTTGGACTCACACTGCTGTCTCTGTATATGTTC c.240
C R G I L V V Y N L G L T L L S L Y M F p.80
| 04 . . . . . . g.77977
TGTGAG | TTAGTAACAGGAGTATGGGAAGGCAAATACAACTTCTTCTGTCAGGGCACACGC c.300
C E | L V T G V W E G K Y N F F C Q G T R p.100
. . | 05 . . . . g.78954
ACCGCAGGAGAATCAGATATGAAG | ATTATCCGTGTCCTCTGGTGGTACTACTTCTCCAAA c.360
T A G E S D M K | I I R V L W W Y Y F S K p.120
. . . . . . g.79014
CTCATAGAATTTATGGACACTTTCTTCTTCATCCTGCGCAAGAACAACCACCAGATCACG c.420
L I E F M D T F F F I L R K N N H Q I T p.140
. . . . . . g.79074
GTCCTGCACGTCTACCACCATGCCTCGATGCTGAACATCTGGTGGTTTGTGATGAACTGG c.480
V L H V Y H H A S M L N I W W F V M N W p.160
. | 06 . . . . . g.80879
GTCCCCTGCGGCCACT | CTTATTTTGGTGCCACACTTAATAGCTTCATCCACGTCCTCATG c.540
V P C G H S | Y F G A T L N S F I H V L M p.180
. . . . . . g.80939
TACTCTTACTATGGTTTGTCGTCAGTCCCTTCCATGCGTCCATACCTCTGGTGGAAGAAG c.600
Y S Y Y G L S S V P S M R P Y L W W K K p.200
. . | 07 . . . . g.83491
TACATCACTCAGGGGCAGCTG | CTTCAGTTTGTGCTGACAATCATCCAGACCAGCTGCGGG c.660
Y I T Q G Q L | L Q F V L T I I Q T S C G p.220
. . . . . . g.83551
GTCATCTGGCCGTGCACATTCCCTCTTGGTTGGTTGTATTTCCAGATTGGATACATGATT c.720
V I W P C T F P L G W L Y F Q I G Y M I p.240
. . . | 08 . . . g.84933
TCCCTGATTGCTCTCTTCACAAACTTCTACATTCAG | ACCTACAACAAGAAAGGGGCCTCC c.780
S L I A L F T N F Y I Q | T Y N K K G A S p.260
. . . . . . g.84993
CGAAGGAAAGACCACCTGAAGGACCACCAGAATGGGTCCATGGCTGCTGTGAATGGACAC c.840
R R K D H L K D H Q N G S M A A V N G H p.280
. . . . . . g.85053
ACCAACAGCTTTTCACCCCTGGAAAACAATGTGAAGCCAAGGAAGCTGCGGAAGGATTGA c.900
T N S F S P L E N N V K P R K L R K D X p.299
. . . . . . g.85113
agtcaaagaattgaaaccctccaaaccacgtcatctgattgtaagcacaatatgagttgt c.*60
. . . . . . g.85173
gccccaatgctcgttaacagctgctgtaactagtctggcctacaatagtgtgattcatgt c.*120
. . . . . . g.85233
aggacttctttcatcaattcaaaacccctagaaaacgtatacagattatataagtaggga c.*180
. . . . . . g.85293
taagatttctaacatttctgggctctctgacccctgcgctagactgtggaaagggagtat c.*240
. . . . . . g.85353
tattatagtatacaacactgctgttgccttattagttataacatgataggtgctgaattg c.*300
. . . . . . g.85413
tgattcacaatttaaaaacactgtaatccaaacttttttttttaactgtagatcatgcat c.*360
. . . . . . g.85473
gtgattgtaaatgtaaatttgtacaatgttgttatggtagagaaacacacatgccttaaa c.*420
. . . . . . g.85533
atttaaaaagcagggcccaaagcttattagtttaaattagggtatgtttcaagtttgtat c.*480
. . . . . . g.85593
taatttgtaatagctctgtttagaaaaaatcaaagaccatgatttatgaaactaatgtga c.*540
. . . . . . g.85653
cataatttccagtgacttgttgatgtgaaatcagacacggcaccttcagttttgtactat c.*600
. . . . . . g.85713
tggctttgaatcaagcaggctcaaatctagtggaacagtcagtttaactttttaacagat c.*660
. . . . . . g.85773
cttatttttttattttgagtgccactattaatgtaaaaaggggggggctctacagcagtc c.*720
. . . . . . g.85833
gtgatgaaacttaaatatatattctttgtcctcgagattttaggaagggtgtagggtgag c.*780
. . . . . . g.85893
taggccatttttaatttctgaagtgctaagtgtttttatacagcaaacaaaaagtcaatt c.*840
. . . . . . g.85953
ttgctttccaccagtgcgagagaggatgtatacttttcaagagagatgattgcctattta c.*900
. . . . . . g.86013
ccgtttgacagagtcccgtagatgagcaatggggaactggttgccagggtctaaatttgg c.*960
. . . . . . g.86073
attgatttatgcactgttatctgttttgacacagatttccttgtaaaatgtgcctagttt c.*1020
. . . . . . g.86133
accaaaattaacaaagggggggaaaggaccttagaactttttaaggtaaaatcaaatata c.*1080
. . . . . . g.86193
gctacagcataagagaatcgagaaatttgatagaggtaacttgtttaatgtaaatctaat c.*1140
. . . . . . g.86253
agtacttgtaatttctttctgcttagaatctaaagatgtgtttagaacctcttgtttaaa c.*1200
. . . . . . g.86313
aataatagactgcttatcataaaatcacatctcacacatttgaggcagtggtcaaacagg c.*1260
. . . . . . g.86373
taaagcctatgatgtgtgtcattttaaagtgtcggaatttagcctctgaataccttctcc c.*1320
. . . . . . g.86433
attgggggaaagatattcttggaaccactcatgacatatcttagaaggtcattgacaatg c.*1380
. . . . . . g.86493
tataaactaattgttggtttgatatttatgtaaatatcagtttaccatgctttaattttg c.*1440
. . . . . . g.86553
cacattcgtactatagggagcctattggttctctattagtcttgtgggttttctgtttga c.*1500
. . . . . . g.86613
aaaggagtcatggcatctgtttacatttaccttatcaaacctagaatgtgtatatttata c.*1560
. . . . . . g.86673
aatgtatgtcttcattgctaggtactaatttgcagatgtctttacatatttcaatacaga c.*1620
. . . . . . g.86733
aactataacattcaatagtgtgctgtcaaagtgtgcttagctcacctggatatacctaca c.*1680
. . . . g.86782
ttgttaaatgtctaaacagtaatcattaaaacatttttgattacctgtg c.*1729
(downstream sequence)
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