Canonical Allele Identifier: CA2418225061

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063225131

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358687_19358688del , CM000685.2:g.19358687_19358688del	GRCh38
NC_000023.10:g.19376805_19376806del , CM000685.1:g.19376805_19376806del	GRCh37
NC_000023.9:g.19286726_19286727del	NCBI36
NG_016781.1:g.19795_19796del
NG_021184.1:g.161575_161576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.921-229_921-228del	ENSP00000348062.6:n.921-229_921-228del
ENST00000379805.4:c.*592-229_*592-228del	ENSP00000369133.3:n.*592-229_*592-228del
ENST00000417819.6:c.984-229_984-228del	ENSP00000404616.2:n.984-229_984-228del
ENST00000423505.6:c.1014-229_1014-228del	ENSP00000406473.2:n.1014-229_1014-228del
ENST00000481733.2:n.695-229_695-228del
ENST00000696704.1:c.*232-229_*232-228del	ENSP00000512823.1:n.*232-229_*232-228del
ENST00000696705.1:c.*355-229_*355-228del	ENSP00000512824.1:n.*355-229_*355-228del
ENST00000422285.7:c.900-229_900-228del MANE Select	ENSP00000394382.2:n.900-229_900-228del
ENST00000379804.1:c.57-229_57-228del	ENSP00000369132.1:n.57-229_57-228del
ENST00000379806.9:c.1014-229_1014-228del	ENSP00000369134.5:n.1014-229_1014-228del
ENST00000422285.6:c.900-229_900-228del	ENSP00000394382.2:n.900-229_900-228del
ENST00000478795.1:n.339-229_339-228del
ENST00000481733.1:n.328-229_328-228del
ENST00000540249.5:c.807-229_807-228del	ENSP00000440761.1:n.807-229_807-228del
ENST00000545074.5:c.921-229_921-228del	ENSP00000438550.1:n.921-229_921-228del
NM_000284.3:c.900-229_900-228del	NP_000275.1:n.900-229_900-228del
NM_001173454.1:c.1014-229_1014-228del	NP_001166925.1:n.1014-229_1014-228del
NM_001173455.1:c.921-229_921-228del	NP_001166926.1:n.921-229_921-228del
NM_001173456.1:c.807-229_807-228del	NP_001166927.1:n.807-229_807-228del
XM_011545531.1:c.1035-229_1035-228del	XP_011543833.1:n.1035-229_1035-228del
XM_011545532.1:c.942-229_942-228del	XP_011543834.1:n.942-229_942-228del
XM_017029574.2:c.921-229_921-228del	XP_016885063.1:n.921-229_921-228del
NM_000284.4:c.900-229_900-228del MANE Select	NP_000275.1:n.900-229_900-228del
NM_001173454.2:c.1014-229_1014-228del	NP_001166925.1:n.1014-229_1014-228del
NM_001173455.2:c.921-229_921-228del	NP_001166926.1:n.921-229_921-228del
NM_001173456.2:c.807-229_807-228del	NP_001166927.1:n.807-229_807-228del