Canonical Allele Identifier: CA2418225562

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359499_19359507delinsTGGAAGTGA , CM000685.2:g.19359499_19359507delinsTGGAAGTGA	GRCh38
NC_000023.10:g.19377617_19377625delinsTGGAAGTGA , CM000685.1:g.19377617_19377625delinsTGGAAGTGA	GRCh37
NC_000023.9:g.19287538_19287546delinsTGGAAGTGA	NCBI36
NG_016781.1:g.20607_20615delinsTGGAAGTGA
NG_021184.1:g.160755_160763delinsTCACTTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1040_1048delinsTGGAAGTGA	ENSP00000348062.6:p.Val347=
ENST00000379805.4:c.*711_*719delinsTGGAAGTGA	ENSP00000369133.3:n.*711_*719delinsTGGAAG...
ENST00000417819.6:c.1103_1111delinsTGGAAGTGA	ENSP00000404616.2:p.Val368=
ENST00000423505.6:c.1133_1141delinsTGGAAGTGA	ENSP00000406473.2:p.Val378=
ENST00000481733.2:n.814_822delinsTGGAAGTGA
ENST00000696704.1:c.*351_*359delinsTGGAAGTGA	ENSP00000512823.1:n.*351_*359delinsTGGAAG...
ENST00000696705.1:c.*474_*482delinsTGGAAGTGA	ENSP00000512824.1:n.*474_*482delinsTGGAAG...
ENST00000422285.7:c.1019_1027delinsTGGAAGTGA MANE Select	ENSP00000394382.2:p.Val340=
ENST00000379804.1:c.176_184delinsTGGAAGTGA	ENSP00000369132.1:p.Val59=
ENST00000379806.9:c.1133_1141delinsTGGAAGTGA	ENSP00000369134.5:p.Val378=
ENST00000422285.6:c.1019_1027delinsTGGAAGTGA	ENSP00000394382.2:p.Val340=
ENST00000478795.1:n.458_466delinsTGGAAGTGA
ENST00000540249.5:c.926_934delinsTGGAAGTGA	ENSP00000440761.1:p.Val309=
ENST00000545074.5:c.1040_1048delinsTGGAAGTGA	ENSP00000438550.1:p.Val347=
NM_000284.3:c.1019_1027delinsTGGAAGTGA	NP_000275.1:p.Val340=
NM_001173454.1:c.1133_1141delinsTGGAAGTGA	NP_001166925.1:p.Val378=
NM_001173455.1:c.1040_1048delinsTGGAAGTGA	NP_001166926.1:p.Val347=
NM_001173456.1:c.926_934delinsTGGAAGTGA	NP_001166927.1:p.Val309=
XM_011545531.1:c.1154_1162delinsTGGAAGTGA	XP_011543833.1:p.Val385=
XM_011545532.1:c.1061_1069delinsTGGAAGTGA	XP_011543834.1:p.Val354=
XM_017029574.2:c.1040_1048delinsTGGAAGTGA	XP_016885063.1:p.Val347=
NM_000284.4:c.1019_1027delinsTGGAAGTGA MANE Select	NP_000275.1:p.Val340=
NM_001173454.2:c.1133_1141delinsTGGAAGTGA	NP_001166925.1:p.Val378=
NM_001173455.2:c.1040_1048delinsTGGAAGTGA	NP_001166926.1:p.Val347=
NM_001173456.2:c.926_934delinsTGGAAGTGA	NP_001166927.1:p.Val309=