Canonical Allele Identifier: CA1148303115

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759918_119759921delinsCCCC , CM000663.2:g.119759918_119759921delinsCCCC	GRCh38
NC_000001.10:g.120302541_120302544delinsCCCC , CM000663.1:g.120302541_120302544delinsCCCC	GRCh37
NC_000001.9:g.120104064_120104067delinsCCCC	NCBI36
NG_013348.1:g.14012_14015delinsGGGG , LRG_447:g.14012_14015delinsGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.628_631delinsGGGG MANE Select	ENSP00000358414.3:p.Gly210=
ENST00000369406.7:c.628_631delinsGGGG	ENSP00000358414.3:p.Gly210=
ENST00000476640.1:n.524_527delinsGGGG
ENST00000544913.2:c.560-639_560-636delinsGGGG	ENSP00000439495.2:n.560-639_560-636delinsGGGG
NM_001166107.1:c.560-639_560-636delinsGGGG , LRG_447t2:c.560-639_560-636delinsGGGG	NP_001159579.1:n.560-639_560-636delinsGGGG
NM_005518.3:c.628_631delinsGGGG , LRG_447t1:c.628_631delinsGGGG	NP_005509.1:p.Gly210=
XM_011541313.1:c.628_631delinsGGGG	XP_011539615.1:p.Gly210=
XM_011541313.2:c.628_631delinsGGGG	XP_011539615.1:p.Gly210=
NM_005518.4:c.628_631delinsGGGG MANE Select	NP_005509.1:p.Gly210=