Canonical Allele Identifier: CA1192442839

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119760052_119760053delinsCT , CM000663.2:g.119760052_119760053delinsCT	GRCh38
NC_000001.10:g.120302675_120302676delinsCT , CM000663.1:g.120302675_120302676delinsCT	GRCh37
NC_000001.9:g.120104198_120104199delinsCT	NCBI36
NG_013348.1:g.13880_13881delinsAG , LRG_447:g.13880_13881delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.560-64_560-63delinsAG MANE Select	ENSP00000358414.3:n.560-64_560-63delinsAG
ENST00000369406.7:c.560-64_560-63delinsAG	ENSP00000358414.3:n.560-64_560-63delinsAG
ENST00000476640.1:n.456-64_456-63delinsAG
ENST00000544913.2:c.560-771_560-770delinsAG	ENSP00000439495.2:n.560-771_560-770delinsAG
NM_001166107.1:c.560-771_560-770delinsAG , LRG_447t2:c.560-771_560-770delinsAG	NP_001159579.1:n.560-771_560-770delinsAG
NM_005518.3:c.560-64_560-63delinsAG , LRG_447t1:c.560-64_560-63delinsAG	NP_005509.1:n.560-64_560-63delinsAG
XM_011541313.1:c.560-64_560-63delinsAG	XP_011539615.1:n.560-64_560-63delinsAG
XM_011541313.2:c.560-64_560-63delinsAG	XP_011539615.1:n.560-64_560-63delinsAG
NM_005518.4:c.560-64_560-63delinsAG MANE Select	NP_005509.1:n.560-64_560-63delinsAG