Canonical Allele Identifier: CA2418225764

Gene: PDHA1

Linked Data

• dbSNP Id: rs2063255296

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359812_19359813insAAAAAAAA , CM000685.2:g.19359812_19359813insAAAAAAAA	GRCh38
NC_000023.10:g.19377930_19377931insAAAAAAAA , CM000685.1:g.19377930_19377931insAAAAAAAA	GRCh37
NC_000023.9:g.19287851_19287852insAAAAAAAA	NCBI36
NG_016781.1:g.20920_20921insAAAAAAAA
NG_021184.1:g.160450_160451insTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*159_*160insAAAAAAAA	ENSP00000348062.6:n.*159_*160insAAAAAAAA
ENST00000417819.6:c.*159_*160insAAAAAAAA	ENSP00000404616.2:n.*159_*160insAAAAAAAA
ENST00000423505.6:c.*159_*160insAAAAAAAA	ENSP00000406473.2:n.*159_*160insAAAAAAAA
ENST00000481733.2:n.1127_1128insAAAAAAAA
ENST00000696704.1:c.*664_*665insAAAAAAAA	ENSP00000512823.1:n.*664_*665insAAAAAAAA
ENST00000696705.1:c.*787_*788insAAAAAAAA	ENSP00000512824.1:n.*787_*788insAAAAAAAA
ENST00000422285.7:c.*159_*160insAAAAAAAA MANE Select	ENSP00000394382.2:n.*159_*160insAAAAAAAA
ENST00000379804.1:c.*159_*160insAAAAAAAA	ENSP00000369132.1:n.*159_*160insAAAAAAAA
ENST00000379806.9:c.*159_*160insAAAAAAAA	ENSP00000369134.5:n.*159_*160insAAAAAAAA
ENST00000422285.6:c.*159_*160insAAAAAAAA	ENSP00000394382.2:n.*159_*160insAAAAAAAA
ENST00000478795.1:n.771_772insAAAAAAAA
ENST00000540249.5:c.*159_*160insAAAAAAAA	ENSP00000440761.1:n.*159_*160insAAAAAAAA
ENST00000545074.5:c.*159_*160insAAAAAAAA	ENSP00000438550.1:n.*159_*160insAAAAAAAA
NM_000284.3:c.*159_*160insAAAAAAAA	NP_000275.1:n.*159_*160insAAAAAAAA
NM_001173454.1:c.*159_*160insAAAAAAAA	NP_001166925.1:n.*159_*160insAAAAAAAA
NM_001173455.1:c.*159_*160insAAAAAAAA	NP_001166926.1:n.*159_*160insAAAAAAAA
NM_001173456.1:c.*159_*160insAAAAAAAA	NP_001166927.1:n.*159_*160insAAAAAAAA
XM_011545531.1:c.*159_*160insAAAAAAAA	XP_011543833.1:n.*159_*160insAAAAAAAA
XM_011545532.1:c.*159_*160insAAAAAAAA	XP_011543834.1:n.*159_*160insAAAAAAAA
XM_017029574.2:c.*159_*160insAAAAAAAA	XP_016885063.1:n.*159_*160insAAAAAAAA
NM_000284.4:c.*159_*160insAAAAAAAA MANE Select	NP_000275.1:n.*159_*160insAAAAAAAA
NM_001173454.2:c.*159_*160insAAAAAAAA	NP_001166925.1:n.*159_*160insAAAAAAAA
NM_001173455.2:c.*159_*160insAAAAAAAA	NP_001166926.1:n.*159_*160insAAAAAAAA
NM_001173456.2:c.*159_*160insAAAAAAAA	NP_001166927.1:n.*159_*160insAAAAAAAA