Canonical Allele Identifier: CA1192442468

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759698_119759703delinsTTCTCC , CM000663.2:g.119759698_119759703delinsTTCTCC	GRCh38
NC_000001.10:g.120302321_120302326delinsTTCTCC , CM000663.1:g.120302321_120302326delinsTTCTCC	GRCh37
NC_000001.9:g.120103844_120103849delinsTTCTCC	NCBI36
NG_013348.1:g.14230_14235delinsGGAGAA , LRG_447:g.14230_14235delinsGGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.685+161_685+166delinsGGAGAA MANE Select	ENSP00000358414.3:n.685+161_685+166delinsGGAGAA
ENST00000369406.7:c.685+161_685+166delinsGGAGAA	ENSP00000358414.3:n.685+161_685+166delinsGGAGAA
ENST00000476640.1:n.581+161_581+166delinsGGAGAA
ENST00000544913.2:c.560-421_560-416delinsGGAGAA	ENSP00000439495.2:n.560-421_560-416delinsGGAGAA
NM_001166107.1:c.560-421_560-416delinsGGAGAA , LRG_447t2:c.560-421_560-416delinsGGAGAA	NP_001159579.1:n.560-421_560-416delinsGGAGAA
NM_005518.3:c.685+161_685+166delinsGGAGAA , LRG_447t1:c.685+161_685+166delinsGGAGAA	NP_005509.1:n.685+161_685+166delinsGGAGAA
XM_011541313.1:c.685+161_685+166delinsGGAGAA	XP_011539615.1:n.685+161_685+166delinsGGAGAA
XM_011541313.2:c.685+161_685+166delinsGGAGAA	XP_011539615.1:n.685+161_685+166delinsGGAGAA
NM_005518.4:c.685+161_685+166delinsGGAGAA MANE Select	NP_005509.1:n.685+161_685+166delinsGGAGAA