Canonical Allele Identifier: CA2573145002

Gene: HACD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.17594310_17594311delinsAT , CM000672.2:g.17594310_17594311delinsAT	GRCh38
NC_000010.10:g.17636309_17636310delinsAT , CM000672.1:g.17636309_17636310delinsAT	GRCh37
NC_000010.9:g.17676315_17676316delinsAT	NCBI36
NG_041789.1:g.28064_28065delinsAT

Transcript Alleles

HGVS	Amino-acid Change
NM_014241.4:c.678_679delinsAT MANE Select	NP_055056.3:p.His227Tyr
ENST00000361271.8:c.678_679delinsAT MANE Select	ENSP00000355308.3:p.His227Tyr
NM_014241.3:c.678_679delinsAT	NP_055056.3:p.His227Tyr
ENST00000361271.7:c.678_679delinsAT	ENSP00000355308.3:p.His227Tyr
ENST00000471481.1:n.464_465delinsAT
ENST00000498812.5:c.181_182delinsAT	ENSP00000462868.1:n.181_182delinsAT
XM_005252641.3:c.570_571delinsAT	XP_005252698.1:p.His191Tyr
XM_005252641.4:c.570_571delinsAT	XP_005252698.1:p.His191Tyr
XR_428651.2:n.847_848delinsAT
XR_428651.3:n.831_832delinsAT