Canonical Allele Identifier: CA2580100442

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2413133
• ClinVar RCV Id: RCV003110143

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359638_19359639insCAGTGGATCAAGTTTA , CM000685.2:g.19359638_19359639insCAGTGGATCAAGTTTA	GRCh38
NC_000023.10:g.19377756_19377757insCAGTGGATCAAGTTTA , CM000685.1:g.19377756_19377757insCAGTGGATCAAGTTTA	GRCh37
NC_000023.9:g.19287677_19287678insCAGTGGATCAAGTTTA	NCBI36
NG_016781.1:g.20746_20747insCAGTGGATCAAGTTTA
NG_021184.1:g.160623_160624insTAAACTTGATCCACTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1179_1180insCAGTGGATCAAGTTTA	ENSP00000348062.6:p.Lys394GlnfsTer?
ENST00000379805.4:c.*850_*851insCAGTGGATCAAGTTTA	ENSP00000369133.3:n.*850_*851insCAGTGGATCAAGTTTA
ENST00000417819.6:c.1242_1243insCAGTGGATCAAGTTTA	ENSP00000404616.2:p.Lys415GlnfsTer?
ENST00000423505.6:c.1272_1273insCAGTGGATCAAGTTTA	ENSP00000406473.2:p.Lys425GlnfsTer?
ENST00000481733.2:n.953_954insCAGTGGATCAAGTTTA
ENST00000696704.1:c.*490_*491insCAGTGGATCAAGTTTA	ENSP00000512823.1:n.*490_*491insCAGTGGATCAAGTTTA
ENST00000696705.1:c.*613_*614insCAGTGGATCAAGTTTA	ENSP00000512824.1:n.*613_*614insCAGTGGATCAAGTTTA
ENST00000422285.7:c.1158_1159insCAGTGGATCAAGTTTA MANE Select	ENSP00000394382.2:p.Lys387GlnfsTer?
ENST00000379804.1:c.315_316insCAGTGGATCAAGTTTA	ENSP00000369132.1:p.Lys106GlnfsTer?
ENST00000379806.9:c.1272_1273insCAGTGGATCAAGTTTA	ENSP00000369134.5:p.Lys425GlnfsTer?
ENST00000422285.6:c.1158_1159insCAGTGGATCAAGTTTA	ENSP00000394382.2:p.Lys387GlnfsTer?
ENST00000478795.1:n.597_598insCAGTGGATCAAGTTTA
ENST00000540249.5:c.1065_1066insCAGTGGATCAAGTTTA	ENSP00000440761.1:p.Lys356GlnfsTer?
ENST00000545074.5:c.1179_1180insCAGTGGATCAAGTTTA	ENSP00000438550.1:p.Lys394GlnfsTer?
NM_000284.3:c.1158_1159insCAGTGGATCAAGTTTA	NP_000275.1:p.Lys387GlnfsTer?
NM_001173454.1:c.1272_1273insCAGTGGATCAAGTTTA	NP_001166925.1:p.Lys425GlnfsTer?
NM_001173455.1:c.1179_1180insCAGTGGATCAAGTTTA	NP_001166926.1:p.Lys394GlnfsTer?
NM_001173456.1:c.1065_1066insCAGTGGATCAAGTTTA	NP_001166927.1:p.Lys356GlnfsTer?
XM_011545531.1:c.1293_1294insCAGTGGATCAAGTTTA	XP_011543833.1:p.Lys432GlnfsTer?
XM_011545532.1:c.1200_1201insCAGTGGATCAAGTTTA	XP_011543834.1:p.Lys401GlnfsTer?
XM_017029574.2:c.1179_1180insCAGTGGATCAAGTTTA	XP_016885063.1:p.Lys394GlnfsTer?
NM_000284.4:c.1158_1159insCAGTGGATCAAGTTTA MANE Select	NP_000275.1:p.Lys387GlnfsTer?
NM_001173454.2:c.1272_1273insCAGTGGATCAAGTTTA	NP_001166925.1:p.Lys425GlnfsTer?
NM_001173455.2:c.1179_1180insCAGTGGATCAAGTTTA	NP_001166926.1:p.Lys394GlnfsTer?
NM_001173456.2:c.1065_1066insCAGTGGATCAAGTTTA	NP_001166927.1:p.Lys356GlnfsTer?