Canonical Allele Identifier: CA2418225020

Gene: PDHA1

Linked Data

• dbSNP Id: rs1463226166

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358598_19358601del , CM000685.2:g.19358598_19358601del	GRCh38
NC_000023.10:g.19376716_19376719del , CM000685.1:g.19376716_19376719del	GRCh37
NC_000023.9:g.19286637_19286640del	NCBI36
NG_016781.1:g.19706_19709del
NG_021184.1:g.161663_161666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-318_921-315del	ENSP00000348062.6:n.921-318_921-315del
ENST00000379805.4:c.*592-318_*592-315del	ENSP00000369133.3:n.*592-318_*592-315del
ENST00000417819.6:c.984-318_984-315del	ENSP00000404616.2:n.984-318_984-315del
ENST00000423505.6:c.1014-318_1014-315del	ENSP00000406473.2:n.1014-318_1014-315del
ENST00000481733.2:n.695-318_695-315del
ENST00000696704.1:c.*232-318_*232-315del	ENSP00000512823.1:n.*232-318_*232-315del
ENST00000696705.1:c.*355-318_*355-315del	ENSP00000512824.1:n.*355-318_*355-315del
ENST00000422285.7:c.900-318_900-315del MANE Select	ENSP00000394382.2:n.900-318_900-315del
ENST00000379804.1:c.57-318_57-315del	ENSP00000369132.1:n.57-318_57-315del
ENST00000379806.9:c.1014-318_1014-315del	ENSP00000369134.5:n.1014-318_1014-315del
ENST00000422285.6:c.900-318_900-315del	ENSP00000394382.2:n.900-318_900-315del
ENST00000478795.1:n.339-318_339-315del
ENST00000481733.1:n.328-318_328-315del
ENST00000540249.5:c.807-318_807-315del	ENSP00000440761.1:n.807-318_807-315del
ENST00000545074.5:c.921-318_921-315del	ENSP00000438550.1:n.921-318_921-315del
NM_000284.3:c.900-318_900-315del	NP_000275.1:n.900-318_900-315del
NM_001173454.1:c.1014-318_1014-315del	NP_001166925.1:n.1014-318_1014-315del
NM_001173455.1:c.921-318_921-315del	NP_001166926.1:n.921-318_921-315del
NM_001173456.1:c.807-318_807-315del	NP_001166927.1:n.807-318_807-315del
XM_011545531.1:c.1035-318_1035-315del	XP_011543833.1:n.1035-318_1035-315del
XM_011545532.1:c.942-318_942-315del	XP_011543834.1:n.942-318_942-315del
XM_017029574.2:c.921-318_921-315del	XP_016885063.1:n.921-318_921-315del
NM_000284.4:c.900-318_900-315del MANE Select	NP_000275.1:n.900-318_900-315del
NM_001173454.2:c.1014-318_1014-315del	NP_001166925.1:n.1014-318_1014-315del
NM_001173455.2:c.921-318_921-315del	NP_001166926.1:n.921-318_921-315del
NM_001173456.2:c.807-318_807-315del	NP_001166927.1:n.807-318_807-315del