Canonical Allele Identifier: CA1192442829

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119760044_119760055delinsAGTGCCTACTGT , CM000663.2:g.119760044_119760055delinsAGTGCCTACTGT	GRCh38
NC_000001.10:g.120302667_120302678delinsAGTGCCTACTGT , CM000663.1:g.120302667_120302678delinsAGTGCCTACTGT	GRCh37
NC_000001.9:g.120104190_120104201delinsAGTGCCTACTGT	NCBI36
NG_013348.1:g.13878_13889delinsACAGTAGGCACT , LRG_447:g.13878_13889delinsACAGTAGGCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.560-66_560-55delinsACAGTAGGCACT MANE Select	ENSP00000358414.3:n.560-66_560-55delinsACAGTAGGCACT
ENST00000369406.7:c.560-66_560-55delinsACAGTAGGCACT	ENSP00000358414.3:n.560-66_560-55delinsACAGTAGGCACT
ENST00000476640.1:n.456-66_456-55delinsACAGTAGGCACT
ENST00000544913.2:c.560-773_560-762delinsACAGTAGGCACT	ENSP00000439495.2:n.560-773_560-762delinsACAGTAGGCACT
NM_001166107.1:c.560-773_560-762delinsACAGTAGGCACT , LRG_447t2:c.560-773_560-762delinsACAGTAGGCACT	NP_001159579.1:n.560-773_560-762delinsACAGTAGGCACT
NM_005518.3:c.560-66_560-55delinsACAGTAGGCACT , LRG_447t1:c.560-66_560-55delinsACAGTAGGCACT	NP_005509.1:n.560-66_560-55delinsACAGTAGGCACT
XM_011541313.1:c.560-66_560-55delinsACAGTAGGCACT	XP_011539615.1:n.560-66_560-55delinsACAGTAGGCACT
XM_011541313.2:c.560-66_560-55delinsACAGTAGGCACT	XP_011539615.1:n.560-66_560-55delinsACAGTAGGCACT
NM_005518.4:c.560-66_560-55delinsACAGTAGGCACT MANE Select	NP_005509.1:n.560-66_560-55delinsACAGTAGGCACT