Canonical Allele Identifier: CA2418225847

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063257671
• gnomAD v4: X-19359937-TGCCCCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359941_19359947del , CM000685.2:g.19359941_19359947del	GRCh38
NC_000023.10:g.19378059_19378065del , CM000685.1:g.19378059_19378065del	GRCh37
NC_000023.9:g.19287980_19287986del	NCBI36
NG_016781.1:g.21049_21055del
NG_021184.1:g.160318_160324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*288_*294del	ENSP00000348062.6:n.*288_*294del
ENST00000423505.6:c.*288_*294del	ENSP00000406473.2:n.*288_*294del
ENST00000696704.1:c.*793_*799del	ENSP00000512823.1:n.*793_*799del
ENST00000696705.1:c.*916_*922del	ENSP00000512824.1:n.*916_*922del
ENST00000422285.7:c.*288_*294del MANE Select	ENSP00000394382.2:n.*288_*294del
ENST00000379806.9:c.*288_*294del	ENSP00000369134.5:n.*288_*294del
ENST00000422285.6:c.*288_*294del	ENSP00000394382.2:n.*288_*294del
ENST00000540249.5:c.*288_*294del	ENSP00000440761.1:n.*288_*294del
ENST00000545074.5:c.*288_*294del	ENSP00000438550.1:n.*288_*294del
NM_000284.3:c.*288_*294del	NP_000275.1:n.*288_*294del
NM_001173454.1:c.*288_*294del	NP_001166925.1:n.*288_*294del
NM_001173455.1:c.*288_*294del	NP_001166926.1:n.*288_*294del
NM_001173456.1:c.*288_*294del	NP_001166927.1:n.*288_*294del
XM_011545531.1:c.*288_*294del	XP_011543833.1:n.*288_*294del
XM_011545532.1:c.*288_*294del	XP_011543834.1:n.*288_*294del
NM_000284.4:c.*288_*294del MANE Select	NP_000275.1:n.*288_*294del
NM_001173454.2:c.*288_*294del	NP_001166925.1:n.*288_*294del
NM_001173455.2:c.*288_*294del	NP_001166926.1:n.*288_*294del
NM_001173456.2:c.*288_*294del	NP_001166927.1:n.*288_*294del