Canonical Allele Identifier: CA2579566473
Gene: PDHA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359645_19359647dup , CM000685.2:g.19359645_19359647dup GRCh38
NC_000023.10:g.19377763_19377765dup , CM000685.1:g.19377763_19377765dup GRCh37
NC_000023.9:g.19287684_19287686dup NCBI36
NG_016781.1:g.20753_20755dup
NG_021184.1:g.160615_160617dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.1186_1188dup ENSP00000348062.6:p.Val396_Ser397insVal
ENST00000379805.4:c.*857_*859dup ENSP00000369133.3:n.*857_*859dup
ENST00000417819.6:c.1249_1251dup ENSP00000404616.2:p.Val417_Ser418insVal
ENST00000423505.6:c.1279_1281dup ENSP00000406473.2:p.Val427_Ser428insVal
ENST00000481733.2:n.960_962dup
ENST00000696704.1:c.*497_*499dup ENSP00000512823.1:n.*497_*499dup
ENST00000696705.1:c.*620_*622dup ENSP00000512824.1:n.*620_*622dup
ENST00000422285.7:c.1165_1167dup MANE Select ENSP00000394382.2:p.Val389_Ser390insVal
ENST00000379804.1:c.322_324dup ENSP00000369132.1:p.Val108_Ser109insVal
ENST00000379806.9:c.1279_1281dup ENSP00000369134.5:p.Val427_Ser428insVal
ENST00000422285.6:c.1165_1167dup ENSP00000394382.2:p.Val389_Ser390insVal
ENST00000478795.1:n.604_606dup
ENST00000540249.5:c.1072_1074dup ENSP00000440761.1:p.Val358_Ser359insVal
ENST00000545074.5:c.1186_1188dup ENSP00000438550.1:p.Val396_Ser397insVal
NM_000284.3:c.1165_1167dup NP_000275.1:p.Val389_Ser390insVal
NM_001173454.1:c.1279_1281dup NP_001166925.1:p.Val427_Ser428insVal
NM_001173455.1:c.1186_1188dup NP_001166926.1:p.Val396_Ser397insVal
NM_001173456.1:c.1072_1074dup NP_001166927.1:p.Val358_Ser359insVal
XM_011545531.1:c.1300_1302dup XP_011543833.1:p.Val434_Ser435insVal
XM_011545532.1:c.1207_1209dup XP_011543834.1:p.Val403_Ser404insVal
XM_017029574.2:c.1186_1188dup XP_016885063.1:p.Val396_Ser397insVal
NM_000284.4:c.1165_1167dup MANE Select NP_000275.1:p.Val389_Ser390insVal
NM_001173454.2:c.1279_1281dup NP_001166925.1:p.Val427_Ser428insVal
NM_001173455.2:c.1186_1188dup NP_001166926.1:p.Val396_Ser397insVal
NM_001173456.2:c.1072_1074dup NP_001166927.1:p.Val358_Ser359insVal