Canonical Allele Identifier: CA1192442753

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759990_119759991delinsCT , CM000663.2:g.119759990_119759991delinsCT	GRCh38
NC_000001.10:g.120302613_120302614delinsCT , CM000663.1:g.120302613_120302614delinsCT	GRCh37
NC_000001.9:g.120104136_120104137delinsCT	NCBI36
NG_013348.1:g.13942_13943delinsAG , LRG_447:g.13942_13943delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.560-2_560-1delinsAG MANE Select	ENSP00000358414.3:n.560-2_560-1delinsAG
ENST00000369406.7:c.560-2_560-1delinsAG	ENSP00000358414.3:n.560-2_560-1delinsAG
ENST00000476640.1:n.456-2_456-1delinsAG
ENST00000544913.2:c.560-709_560-708delinsAG	ENSP00000439495.2:n.560-709_560-708delinsAG
NM_001166107.1:c.560-709_560-708delinsAG , LRG_447t2:c.560-709_560-708delinsAG	NP_001159579.1:n.560-709_560-708delinsAG
NM_005518.3:c.560-2_560-1delinsAG , LRG_447t1:c.560-2_560-1delinsAG	NP_005509.1:n.560-2_560-1delinsAG
XM_011541313.1:c.560-2_560-1delinsAG	XP_011539615.1:n.560-2_560-1delinsAG
XM_011541313.2:c.560-2_560-1delinsAG	XP_011539615.1:n.560-2_560-1delinsAG
NM_005518.4:c.560-2_560-1delinsAG MANE Select	NP_005509.1:n.560-2_560-1delinsAG