Canonical Allele Identifier: CA640522627

Gene: PDHA1

Linked Data

• dbSNP Id: rs1555935314
• gnomAD v2: X-19377258-A-AATAGTTCCGTAGTTCC
• gnomAD v3: X-19359140-A-AATAGTTCCGTAGTTCC
• gnomAD v4: X-19359140-A-AATAGTTCCGTAGTTCC
• MyVariant Identifiers: chrX:g.19377266_19377267insGTAGTTCCATAGTTCC (hg19) ; chrX:g.19359148_19359149insGTAGTTCCATAGTTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359148_19359149insGTAGTTCCATAGTTCC , CM000685.2:g.19359148_19359149insGTAGTTCCATAGTTCC	GRCh38
NC_000023.10:g.19377266_19377267insGTAGTTCCATAGTTCC , CM000685.1:g.19377266_19377267insGTAGTTCCATAGTTCC	GRCh37
NC_000023.9:g.19287187_19287188insGTAGTTCCATAGTTCC	NCBI36
NG_016781.1:g.20256_20257insGTAGTTCCATAGTTCC
NG_021184.1:g.161121_161122insGGAACTACGGAACTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.1029+124_1029+125insGTAGTTCCATAGTTCC	ENSP00000348062.6:n.1029+124_1029+125insGTAGTTCCATAGTTCC
ENST00000379805.4:c.*700+124_*700+125insGTAGTTCCATAGTTCC	ENSP00000369133.3:n.*700+124_*700+125insGTAGTTCCATAGTTCC
ENST00000417819.6:c.1092+124_1092+125insGTAGTTCCATAGTTCC	ENSP00000404616.2:n.1092+124_1092+125insGTAGTTCCATAGTTCC
ENST00000423505.6:c.1122+124_1122+125insGTAGTTCCATAGTTCC	ENSP00000406473.2:n.1122+124_1122+125insGTAGTTCCATAGTTCC
ENST00000481733.2:n.803+124_803+125insGTAGTTCCATAGTTCC
ENST00000696704.1:c.*340+124_*340+125insGTAGTTCCATAGTTCC	ENSP00000512823.1:n.*340+124_*340+125insGTAGTTCCATAGTTCC
ENST00000696705.1:c.*463+124_*463+125insGTAGTTCCATAGTTCC	ENSP00000512824.1:n.*463+124_*463+125insGTAGTTCCATAGTTCC
ENST00000422285.7:c.1008+124_1008+125insGTAGTTCCATAGTTCC MANE Select	ENSP00000394382.2:n.1008+124_1008+125insGTAGTTCCATAGTTCC
ENST00000379804.1:c.165+124_165+125insGTAGTTCCATAGTTCC	ENSP00000369132.1:n.165+124_165+125insGTAGTTCCATAGTTCC
ENST00000379806.9:c.1122+124_1122+125insGTAGTTCCATAGTTCC	ENSP00000369134.5:n.1122+124_1122+125insGTAGTTCCATAGTTCC
ENST00000422285.6:c.1008+124_1008+125insGTAGTTCCATAGTTCC	ENSP00000394382.2:n.1008+124_1008+125insGTAGTTCCATAGTTCC
ENST00000478795.1:n.447+124_447+125insGTAGTTCCATAGTTCC
ENST00000540249.5:c.915+124_915+125insGTAGTTCCATAGTTCC	ENSP00000440761.1:n.915+124_915+125insGTAGTTCCATAGTTCC
ENST00000545074.5:c.1029+124_1029+125insGTAGTTCCATAGTTCC	ENSP00000438550.1:n.1029+124_1029+125insGTAGTTCCATAGTTCC
NM_000284.3:c.1008+124_1008+125insGTAGTTCCATAGTTCC	NP_000275.1:n.1008+124_1008+125insGTAGTTCCATAGTTCC
NM_001173454.1:c.1122+124_1122+125insGTAGTTCCATAGTTCC	NP_001166925.1:n.1122+124_1122+125insGTAGTTCCATAGTTCC
NM_001173455.1:c.1029+124_1029+125insGTAGTTCCATAGTTCC	NP_001166926.1:n.1029+124_1029+125insGTAGTTCCATAGTTCC
NM_001173456.1:c.915+124_915+125insGTAGTTCCATAGTTCC	NP_001166927.1:n.915+124_915+125insGTAGTTCCATAGTTCC
XM_011545531.1:c.1143+124_1143+125insGTAGTTCCATAGTTCC	XP_011543833.1:n.1143+124_1143+125insGTAGTTCCATAGTTCC
XM_011545532.1:c.1050+124_1050+125insGTAGTTCCATAGTTCC	XP_011543834.1:n.1050+124_1050+125insGTAGTTCCATAGTTCC
XM_017029574.2:c.1029+124_1029+125insGTAGTTCCATAGTTCC	XP_016885063.1:n.1029+124_1029+125insGTAGTTCCATAGTTCC
NM_000284.4:c.1008+124_1008+125insGTAGTTCCATAGTTCC MANE Select	NP_000275.1:n.1008+124_1008+125insGTAGTTCCATAGTTCC
NM_001173454.2:c.1122+124_1122+125insGTAGTTCCATAGTTCC	NP_001166925.1:n.1122+124_1122+125insGTAGTTCCATAGTTCC
NM_001173455.2:c.1029+124_1029+125insGTAGTTCCATAGTTCC	NP_001166926.1:n.1029+124_1029+125insGTAGTTCCATAGTTCC
NM_001173456.2:c.915+124_915+125insGTAGTTCCATAGTTCC	NP_001166927.1:n.915+124_915+125insGTAGTTCCATAGTTCC