Canonical Allele Identifier: CA2647400621

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119759988-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759990del , CM000663.2:g.119759990del	GRCh38
NC_000001.10:g.120302613del , CM000663.1:g.120302613del	GRCh37
NC_000001.9:g.120104136del	NCBI36
NG_013348.1:g.13944del , LRG_447:g.13944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.560del
ENST00000369406.7:c.560del
ENST00000476640.1:n.456del
ENST00000544913.2:c.560-707del	ENSP00000439495.2:n.560-707del
NM_001166107.1:c.560-707del , LRG_447t2:c.560-707del	NP_001159579.1:n.560-707del
NM_005518.3:c.560del , LRG_447t1:c.560del
XM_011541313.1:c.560del
XM_011541313.2:c.560del
NM_005518.4:c.560del