Canonical Allele Identifier: CA2418225844

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359937_19359944delinsTGCCCCCA , CM000685.2:g.19359937_19359944delinsTGCCCCCA	GRCh38
NC_000023.10:g.19378055_19378062delinsTGCCCCCA , CM000685.1:g.19378055_19378062delinsTGCCCCCA	GRCh37
NC_000023.9:g.19287976_19287983delinsTGCCCCCA	NCBI36
NG_016781.1:g.21045_21052delinsTGCCCCCA
NG_021184.1:g.160318_160325delinsTGGGGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*284_*291delinsTGCCCCCA	ENSP00000348062.6:n.*284_*291delinsTGCCCCCA
ENST00000423505.6:c.*284_*291delinsTGCCCCCA	ENSP00000406473.2:n.*284_*291delinsTGCCCCCA
ENST00000696704.1:c.*789_*796delinsTGCCCCCA	ENSP00000512823.1:n.*789_*796delinsTGCCCCCA
ENST00000696705.1:c.*912_*919delinsTGCCCCCA	ENSP00000512824.1:n.*912_*919delinsTGCCCCCA
ENST00000422285.7:c.*284_*291delinsTGCCCCCA MANE Select	ENSP00000394382.2:n.*284_*291delinsTGCCCCCA
ENST00000379806.9:c.*284_*291delinsTGCCCCCA	ENSP00000369134.5:n.*284_*291delinsTGCCCCCA
ENST00000422285.6:c.*284_*291delinsTGCCCCCA	ENSP00000394382.2:n.*284_*291delinsTGCCCCCA
ENST00000540249.5:c.*284_*291delinsTGCCCCCA	ENSP00000440761.1:n.*284_*291delinsTGCCCCCA
ENST00000545074.5:c.*284_*291delinsTGCCCCCA	ENSP00000438550.1:n.*284_*291delinsTGCCCCCA
NM_000284.3:c.*284_*291delinsTGCCCCCA	NP_000275.1:n.*284_*291delinsTGCCCCCA
NM_001173454.1:c.*284_*291delinsTGCCCCCA	NP_001166925.1:n.*284_*291delinsTGCCCCCA
NM_001173455.1:c.*284_*291delinsTGCCCCCA	NP_001166926.1:n.*284_*291delinsTGCCCCCA
NM_001173456.1:c.*284_*291delinsTGCCCCCA	NP_001166927.1:n.*284_*291delinsTGCCCCCA
XM_011545531.1:c.*284_*291delinsTGCCCCCA	XP_011543833.1:n.*284_*291delinsTGCCCCCA
XM_011545532.1:c.*284_*291delinsTGCCCCCA	XP_011543834.1:n.*284_*291delinsTGCCCCCA
NM_000284.4:c.*284_*291delinsTGCCCCCA MANE Select	NP_000275.1:n.*284_*291delinsTGCCCCCA
NM_001173454.2:c.*284_*291delinsTGCCCCCA	NP_001166925.1:n.*284_*291delinsTGCCCCCA
NM_001173455.2:c.*284_*291delinsTGCCCCCA	NP_001166926.1:n.*284_*291delinsTGCCCCCA
NM_001173456.2:c.*284_*291delinsTGCCCCCA	NP_001166927.1:n.*284_*291delinsTGCCCCCA