(used for variant description)
(last modified July 21, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001005404.3 in the YPEL2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering YPEL2 transcript NM_001005404.3.
(upstream sequence)
. . g.5028
gccgcggcggtggcggagactgtggctt c.-301
. . . . . . g.5088
taagagcgtgccgggagcccgagccccagccgggccgcgcttcgccgctgcgcaccccag c.-241
. . . . . | 02 . g.26538
cggagccaagccccacgctggccggacagggccgcctgtcgccgg | gctgctgagaactag c.-181
. . . . . . g.26598
ccctagacctctgcgtgagggttcttctgccgaagacatcaccagtgtgtggagcctgcc c.-121
. . . . . . g.26658
acacccacccgctgccaaaccacggcctttacctgtgtcttccggtgtttcccgtgcgac c.-61
. . . . . . g.26718
ccatcctgtgggagtgcctcgtgggctgccccagagttcaccccacactcagcagcacca c.-1
. . . . . . g.26778
ATGGTGAAGATGACAAGATCGAAGACTTTCCAGGCATATCTGCCCTCCTGCCACCGGACC c.60
M V K M T R S K T F Q A Y L P S C H R T p.20
. . . . . | 03. g.61638
TACAGCTGCATTCACTGCAGAGCTCACTTGGCCAATCATGATGAACTAATTTCCAAG | TCA c.120
Y S C I H C R A H L A N H D E L I S K | S p.40
. . . . | 04 . . g.62687
TTCCAAGGAAGTCAAGGACGAGCATACCTCTTTAACTCAGT | AGTTAATGTGGGCTGTGGG c.180
F Q G S Q G R A Y L F N S V | V N V G C G p.60
. . . . . . g.62747
CCTGCAGAAGAGCGAGTGTTGCTAACAGGACTGCATGCAGTCGCAGACATTTACTGTGAA c.240
P A E E R V L L T G L H A V A D I Y C E p.80
. . . | 05 . . . g.70439
AACTGCAAAACCACTCTGGGCTGGAAATAC | GAACATGCTTTTGAAAGCAGCCAGAAATAT c.300
N C K T T L G W K Y | E H A F E S S Q K Y p.100
. . . . . . g.70499
AAAGAAGGCAAATACATCATTGAACTAGCACACATGATCAAGGACAATGGCTGGGACTGA c.360
K E G K Y I I E L A H M I K D N G W D X p.119
. . . . . . g.70559
ttggacagcatctacccaacccagtgtccacgtgaacgccattcaaccgaacattcttcc c.*60
. . . . . . g.70619
caagcgtgagagagtgactgacacttggttccatccatttaggggccttgccatccgggg c.*120
. . . . . . g.70679
catcctcccaccctgacgccatctttctggtgaccggcctctaaatcgctgtctctctgt c.*180
. . . . . . g.70739
ctctttgctttgtatctgtttgtgagttgatcctggcttctctctctgttctagttttgg c.*240
. . . . . . g.70799
ctgaaaacaaaacaacaaaaggaacagatccttgaccgcatggcggcagcccaccttggt c.*300
. . . . . . g.70859
aagggccccagggcccatgcgagagctgcctgatggcctcttgtcaggagagcagtggca c.*360
. . . . . . g.70919
cgggggcgtgaggaagagggaaaggggaaactctaagggtcctggcgcggggaaggggtg c.*420
. . . . . . g.70979
gaagggtggaggtaggaacaaaattgcgccgctcctggagacctgataacttaggcttga c.*480
. . . . . . g.71039
aataattgacttgtctaaaaggacaaagagaaaaaaaaaatacctcatgactgcattctc c.*540
. . . . . . g.71099
tctgactagaagcttctgttcctgacaccaaatgtgccaggttagcaaatgagcacaaga c.*600
. . . . . . g.71159
tgtggccctgattctagttggtggggcaagggcctggttctcctgggctgagtgggggag c.*660
. . . . . . g.71219
tgtcctggcagcagcgagtgacctgggcagtggccaggtgggtgcgatgactctgatgcc c.*720
. . . . . . g.71279
tcactcagtctctgggcaatcatcatctttgcctctagccaccgtagataaggtgtgaag c.*780
. . . . . . g.71339
ggactgctgtttgcaatgggcttaccatccaaatatcccaaaggctttgaccagcaacca c.*840
. . . . . . g.71399
agtaaaatcagtaattgaggagagcagggcacaaaggggctgcagtttgggagctcctga c.*900
. . . . . . g.71459
agaaatggctcagatattgagtcagagaaataaaaagtaggatcagttagcaattctaac c.*960
. . . . . . g.71519
tgcccttccttctgacccctcataagaggagtgtggtgagggaggggactgggtaggggt c.*1020
. . . . . . g.71579
catcccaggaggaggggtttacattggaaccagttcaggttcggtgcatctttcctcttc c.*1080
. . . . . . g.71639
ggttttacagtggcttccgtgggatcgtcaatttcttgttcttagagtttcgggtgtttt c.*1140
. . . . . . g.71699
tctccagtcttgttactgtagactgtagaaagcacgggccccaggctctgagcttagtaa c.*1200
. . . . . . g.71759
taacctggctggtagattcctcatgcccctaattgtcccacttaggcctgaatgtcttgc c.*1260
. . . . . . g.71819
atggagagaaatctcctgtcagtgtggtccagcagcagggaggagttctgcccaaattcc c.*1320
. . . . . . g.71879
gatatcaccccttcccccatccaagcatccttcgattagggaagtggagagcacatccct c.*1380
. . . . . . g.71939
gtaaggcccataagagaaagaggagtttgttacatttaatcaacactgtgaagtctgttc c.*1440
. . . . . . g.71999
tacagcaattcagccattacacagtatatgactgaaactcatttaactgggttaatttca c.*1500
. . . . . . g.72059
tttcttagactgaatatattattgttaagatacgtgtgcgtgttaggtaattctcagcat c.*1560
. . . . . . g.72119
ctcctccaagtaggccgaccttctcggaaaattcaccctaaaagtctcacaaaagaatga c.*1620
. . . . . . g.72179
gttcatggggagattctgtaaagtgatgaactgagatgaaagcagccaacagcccaggag c.*1680
. . . . . . g.72239
cttttcagaatagcgtctgcagcagaaccagtttccattcagagcgcgtccttggtggaa c.*1740
. . . . . . g.72299
atgcttttttgtgtgtctccacgcgctgatggtggaatgggagccccaagacgtgtgggc c.*1800
. . . . . . g.72359
ttagaaatcaacttttgttccccaaggcttcttgtccagatctttccagtgctttcatag c.*1860
. . . . . . g.72419
ccctgggagatcaagttgttctccccactttactgcaaggtagactgaagttcagaagaa c.*1920
. . . . . . g.72479
atactgaatttctgctcccagaagaatagtttctctggctcacaggcccaagttctcaat c.*1980
. . . . . . g.72539
gaaatcgttttttaactttcacattcctaagctggcttcccggcacagaagccatggatt c.*2040
. . . . . . g.72599
tcccctctctcccttccccctcctcaaggaaatagtcttcctttatggattttcattgga c.*2100
. . . . . . g.72659
ctctttcctcagcgattgtcctggctgtttattgatagtccttcccataagaaaatgggg c.*2160
. . . . . . g.72719
ttaaacatggggtaggtattttgtctttcaaactacaaatggaatgtggtgacataaact c.*2220
. . . . . . g.72779
agacatggggtgccctcaagtttccaaggggaccaatgtgccactgttcttccttgggga c.*2280
. . . . . . g.72839
tgaggcctttgactgttggatggatcagagcaggctccagtcagaccctggttctgaatg c.*2340
. . . . . . g.72899
ttttttttttcggtgactatccagtgagccttcagtgggtgcaaggcgccatacttgctg c.*2400
. . . . . . g.72959
tgagagagctgagtagagtgttggtttttccataactacagggggaaaaaaagtcattag c.*2460
. . . . . . g.73019
gctttccctttgtgtcagtgaaaccaaaagtgcttcttacaacgttcgctctgttcatgg c.*2520
. . . . . . g.73079
gttgtctatctaacattgagcagcattggagaggccacagctgagctatggagatgctaa c.*2580
. . . . . . g.73139
attaactcatggcctcagtcagttcattctttaatttcctcaccaaattattgacttaga c.*2640
. . . . . . g.73199
gcataaccaaagacctcattcattcaccccaggtgggttggggtaattggagtttgttgg c.*2700
. . . . . . g.73259
tgaagtttgggggcggggtgttgggagtagagacagggtaaggggacgtgagaaaggaaa c.*2760
. . . . . . g.73319
aggcatgaagttctatacctcagccagcagctgccttcgtttggaactgaagtccagcca c.*2820
. . . . . . g.73379
gcagactctctagctccatctcccctgtgccaccctaggtcatatgaccttggccacctt c.*2880
. . . . . . g.73439
ggagtagacccagacccctcgggacccgggacattagtctcaggctgctgatggattgat c.*2940
. . . . . . g.73499
ttgacatgaaccaaacacagccaaactcgatacccacaagctgtcagctgaacctgactg c.*3000
. . . . . . g.73559
agtgttcttcctgagttcacgaggataggctagagtgcatttttactggtggatcagtgt c.*3060
. . . . . . g.73619
gtgcgaaagagatgaccctttataaagagattttcaagtggatatatataaaagaaacag c.*3120
. . . . . . g.73679
ttgcttgtaaaatatacttttgtaaataatatttaattttttaaataatatatttggtgc c.*3180
. . . . . . g.73739
tgttttctcagatcccctgagagcactttttattttccttttaaattctatggtttcctt c.*3240
. . . . . . g.73799
tgcatttcttgaagtatattttaagggaaacagtgatcaccaatacatgttttcagtttt c.*3300
. . . . . . g.73859
ttttttttttaaggtctctatcactttaatctggatcaaggctttgaagcaatgcctctc c.*3360
. . . . . . g.73919
tgcattttttccccagtggaacagactctgcagtacattaatcaggttgagaattgaaat c.*3420
. . . . . . g.73979
attttcttgcatcagtattggctagaaaagaaaataaataaaaccaagttaatttagtag c.*3480
. . . . . . g.74039
taacaacttacagtgattcttcctgttggaagaatttccaacaaatcagaatcacgtttt c.*3540
. . . . . . g.74099
tagttgtgcgtgtgcgcgcacacgtgtgtaaaaagcactttcgattgtgcctcctgtttt c.*3600
. . . . . . g.74159
ctcgagtggggacactttaactacagtttacacctcgggcgcataaagtttttcttctct c.*3660
. . . . . . g.74219
ttctctctggttgtttctgtttctgagtggaccaacagcagaacccacgaggatttgttt c.*3720
. . . . . . g.74279
tgagtatggagctgttgcgggtttgctcctttttcttgctttgcgtgctcagtttttaca c.*3780
. . . . . . g.74339
gactgtaaaggagatgtgttgtttgtgaagatggagcagagtcaaatctgtgcttctaac c.*3840
. . . . . . g.74399
tgagatgagagtgtattaatcacgtatcgcagggctccagctgttttagaagccacatca c.*3900
. . . . . . g.74459
tgttaaacattaactggtttggattaaaagaacattaatattataatacacatatcttag c.*3960
. . . . . . g.74519
tggtaaacagctttttttttttaaggtcagattgcctcaggtttagaaagaggctgagaa c.*4020
. . . . . . g.74579
atcaaatcttgaacacaatcaacttacatattttaaaggaatctgcctcaaatgagaaaa c.*4080
. . . . . . g.74639
tatgctagttatctagatagaggaaagagatatttacttttttaaaaattaaaatagtta c.*4140
. . . . . . g.74699
tgaaatctggcagaaaaggtaaagcctagaagaaactatgaaagctattctcatgttacc c.*4200
. . . . . . g.74759
aaattctatctgcgcatatgtttttgtataacatttcggtgacagtgggagtcggttccc c.*4260
. . . . . . g.74819
tttcccaacctgcagagactatcttccaatacagaatctgtctatttatgcttgtgttta c.*4320
. . . . . . g.74879
caaactgtatttgttgggtttgggtttttgttttctttggtggcatttttcaggtcactt c.*4380
. . . . . . g.74939
tgcttctataacaaaggtaattgttttcaaataatttgtcttcaccttttcctgtatttg c.*4440
. . . . . . g.74999
tacatagtgattcagtattagagaaaagtgcattgtttctgtcatatttccaatctgtgt c.*4500
. . . . g.75043
tggtgctcatttgagaaaataaaagttttcaaatattaactctt c.*4544
(downstream sequence)
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