Canonical Allele Identifier: CA2693251543

Gene: PDHA1

Linked Data

• gnomAD v4: X-19359969-TATGGCGGGGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359970_19359981del , CM000685.2:g.19359970_19359981del	GRCh38
NC_000023.10:g.19378088_19378099del , CM000685.1:g.19378088_19378099del	GRCh37
NC_000023.9:g.19288009_19288020del	NCBI36
NG_016781.1:g.21078_21089del
NG_021184.1:g.160281_160292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*317_*328del	ENSP00000348062.6:n.*317_*328del
ENST00000423505.6:c.*317_*328del	ENSP00000406473.2:n.*317_*328del
ENST00000696704.1:c.*822_*833del	ENSP00000512823.1:n.*822_*833del
ENST00000696705.1:c.*945_*956del	ENSP00000512824.1:n.*945_*956del
ENST00000422285.7:c.*317_*328del MANE Select	ENSP00000394382.2:n.*317_*328del
ENST00000379806.9:c.*317_*328del	ENSP00000369134.5:n.*317_*328del
ENST00000422285.6:c.*317_*328del	ENSP00000394382.2:n.*317_*328del
ENST00000540249.5:c.*317_*328del	ENSP00000440761.1:n.*317_*328del
ENST00000545074.5:c.*317_*328del	ENSP00000438550.1:n.*317_*328del
NM_000284.3:c.*317_*328del	NP_000275.1:n.*317_*328del
NM_001173454.1:c.*317_*328del	NP_001166925.1:n.*317_*328del
NM_001173455.1:c.*317_*328del	NP_001166926.1:n.*317_*328del
NM_001173456.1:c.*317_*328del	NP_001166927.1:n.*317_*328del
XM_011545531.1:c.*317_*328del	XP_011543833.1:n.*317_*328del
XM_011545532.1:c.*317_*328del	XP_011543834.1:n.*317_*328del
NM_000284.4:c.*317_*328del MANE Select	NP_000275.1:n.*317_*328del
NM_001173454.2:c.*317_*328del	NP_001166925.1:n.*317_*328del
NM_001173455.2:c.*317_*328del	NP_001166926.1:n.*317_*328del
NM_001173456.2:c.*317_*328del	NP_001166927.1:n.*317_*328del