Canonical Allele Identifier: CA2418225623

Gene: PDHA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19359639_19359643delinsAAGTC , CM000685.2:g.19359639_19359643delinsAAGTC	GRCh38
NC_000023.10:g.19377757_19377761delinsAAGTC , CM000685.1:g.19377757_19377761delinsAAGTC	GRCh37
NC_000023.9:g.19287678_19287682delinsAAGTC	NCBI36
NG_016781.1:g.20747_20751delinsAAGTC
NG_021184.1:g.160619_160623delinsGACTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000355808.10:c.1180_1184delinsAAGTC	ENSP00000348062.6:p.Lys394=
ENST00000379805.4:c.*851_*855delinsAAGTC	ENSP00000369133.3:n.*851_*855delinsAAGTC
ENST00000417819.6:c.1243_1247delinsAAGTC	ENSP00000404616.2:p.Lys415=
ENST00000423505.6:c.1273_1277delinsAAGTC	ENSP00000406473.2:p.Lys425=
ENST00000481733.2:n.954_958delinsAAGTC
ENST00000696704.1:c.*491_*495delinsAAGTC	ENSP00000512823.1:n.*491_*495delinsAAGTC
ENST00000696705.1:c.*614_*618delinsAAGTC	ENSP00000512824.1:n.*614_*618delinsAAGTC
ENST00000422285.7:c.1159_1163delinsAAGTC MANE Select	ENSP00000394382.2:p.Lys387=
ENST00000379804.1:c.316_320delinsAAGTC	ENSP00000369132.1:p.Lys106=
ENST00000379806.9:c.1273_1277delinsAAGTC	ENSP00000369134.5:p.Lys425=
ENST00000422285.6:c.1159_1163delinsAAGTC	ENSP00000394382.2:p.Lys387=
ENST00000478795.1:n.598_602delinsAAGTC
ENST00000540249.5:c.1066_1070delinsAAGTC	ENSP00000440761.1:p.Lys356=
ENST00000545074.5:c.1180_1184delinsAAGTC	ENSP00000438550.1:p.Lys394=
NM_000284.3:c.1159_1163delinsAAGTC	NP_000275.1:p.Lys387=
NM_001173454.1:c.1273_1277delinsAAGTC	NP_001166925.1:p.Lys425=
NM_001173455.1:c.1180_1184delinsAAGTC	NP_001166926.1:p.Lys394=
NM_001173456.1:c.1066_1070delinsAAGTC	NP_001166927.1:p.Lys356=
XM_011545531.1:c.1294_1298delinsAAGTC	XP_011543833.1:p.Lys432=
XM_011545532.1:c.1201_1205delinsAAGTC	XP_011543834.1:p.Lys401=
XM_017029574.2:c.1180_1184delinsAAGTC	XP_016885063.1:p.Lys394=
NM_000284.4:c.1159_1163delinsAAGTC MANE Select	NP_000275.1:p.Lys387=
NM_001173454.2:c.1273_1277delinsAAGTC	NP_001166925.1:p.Lys425=
NM_001173455.2:c.1180_1184delinsAAGTC	NP_001166926.1:p.Lys394=
NM_001173456.2:c.1066_1070delinsAAGTC	NP_001166927.1:p.Lys356=