Canonical Allele Identifier: CA2647400628

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119760021-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119760023del , CM000663.2:g.119760023del	GRCh38
NC_000001.10:g.120302646del , CM000663.1:g.120302646del	GRCh37
NC_000001.9:g.120104169del	NCBI36
NG_013348.1:g.13911del , LRG_447:g.13911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.560-33del MANE Select	ENSP00000358414.3:n.560-33del
ENST00000369406.7:c.560-33del	ENSP00000358414.3:n.560-33del
ENST00000476640.1:n.456-33del
ENST00000544913.2:c.560-740del	ENSP00000439495.2:n.560-740del
NM_001166107.1:c.560-740del , LRG_447t2:c.560-740del	NP_001159579.1:n.560-740del
NM_005518.3:c.560-33del , LRG_447t1:c.560-33del	NP_005509.1:n.560-33del
XM_011541313.1:c.560-33del	XP_011539615.1:n.560-33del
XM_011541313.2:c.560-33del	XP_011539615.1:n.560-33del
NM_005518.4:c.560-33del MANE Select	NP_005509.1:n.560-33del