Canonical Allele Identifier: CA2418225808

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359874_19359892delinsATACTTTGAACAAATACTC , CM000685.2:g.19359874_19359892delinsATACTTTGAACAAATACTC	GRCh38
NC_000023.10:g.19377992_19378010delinsATACTTTGAACAAATACTC , CM000685.1:g.19377992_19378010delinsATACTTTGAACAAATACTC	GRCh37
NC_000023.9:g.19287913_19287931delinsATACTTTGAACAAATACTC	NCBI36
NG_016781.1:g.20982_21000delinsATACTTTGAACAAATACTC
NG_021184.1:g.160370_160388delinsGAGTATTTGTTCAAAGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.*221_*239delinsATACTTTGAACAAATACTC	ENSP00000348062.6:n.*221_*239delinsATACTTTGAACAAATACTC
ENST00000423505.6:c.*221_*239delinsATACTTTGAACAAATACTC	ENSP00000406473.2:n.*221_*239delinsATACTTTGAACAAATACTC
ENST00000696704.1:c.*726_*744delinsATACTTTGAACAAATACTC	ENSP00000512823.1:n.*726_*744delinsATACTTTGAACAAATACTC
ENST00000696705.1:c.*849_*867delinsATACTTTGAACAAATACTC	ENSP00000512824.1:n.*849_*867delinsATACTTTGAACAAATACTC
ENST00000422285.7:c.*221_*239delinsATACTTTGAACAAATACTC MANE Select	ENSP00000394382.2:n.*221_*239delinsATACTTTGAACAAATACTC
ENST00000379806.9:c.*221_*239delinsATACTTTGAACAAATACTC	ENSP00000369134.5:n.*221_*239delinsATACTTTGAACAAATACTC
ENST00000422285.6:c.*221_*239delinsATACTTTGAACAAATACTC	ENSP00000394382.2:n.*221_*239delinsATACTTTGAACAAATACTC
ENST00000540249.5:c.*221_*239delinsATACTTTGAACAAATACTC	ENSP00000440761.1:n.*221_*239delinsATACTTTGAACAAATACTC
ENST00000545074.5:c.*221_*239delinsATACTTTGAACAAATACTC	ENSP00000438550.1:n.*221_*239delinsATACTTTGAACAAATACTC
NM_000284.3:c.*221_*239delinsATACTTTGAACAAATACTC	NP_000275.1:n.*221_*239delinsATACTTTGAACAAATACTC
NM_001173454.1:c.*221_*239delinsATACTTTGAACAAATACTC	NP_001166925.1:n.*221_*239delinsATACTTTGAACAAATACTC
NM_001173455.1:c.*221_*239delinsATACTTTGAACAAATACTC	NP_001166926.1:n.*221_*239delinsATACTTTGAACAAATACTC
NM_001173456.1:c.*221_*239delinsATACTTTGAACAAATACTC	NP_001166927.1:n.*221_*239delinsATACTTTGAACAAATACTC
XM_011545531.1:c.*221_*239delinsATACTTTGAACAAATACTC	XP_011543833.1:n.*221_*239delinsATACTTTGAACAAATACTC
XM_011545532.1:c.*221_*239delinsATACTTTGAACAAATACTC	XP_011543834.1:n.*221_*239delinsATACTTTGAACAAATACTC
NM_000284.4:c.*221_*239delinsATACTTTGAACAAATACTC MANE Select	NP_000275.1:n.*221_*239delinsATACTTTGAACAAATACTC
NM_001173454.2:c.*221_*239delinsATACTTTGAACAAATACTC	NP_001166925.1:n.*221_*239delinsATACTTTGAACAAATACTC
NM_001173455.2:c.*221_*239delinsATACTTTGAACAAATACTC	NP_001166926.1:n.*221_*239delinsATACTTTGAACAAATACTC
NM_001173456.2:c.*221_*239delinsATACTTTGAACAAATACTC	NP_001166927.1:n.*221_*239delinsATACTTTGAACAAATACTC