Canonical Allele Identifier: CA1192440280

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753303_119753308delinsCGAAAT , CM000663.2:g.119753303_119753308delinsCGAAAT	GRCh38
NC_000001.10:g.120295926_120295931delinsCGAAAT , CM000663.1:g.120295926_120295931delinsCGAAAT	GRCh37
NC_000001.9:g.120097449_120097454delinsCGAAAT	NCBI36
NG_013348.1:g.20625_20630delinsATTTCG , LRG_447:g.20625_20630delinsATTTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1266_1271delinsATTTCG MANE Select	ENSP00000358414.3:p.Ser422=
ENST00000369406.7:c.1266_1271delinsATTTCG	ENSP00000358414.3:p.Ser422=
ENST00000544913.2:c.1140_1145delinsATTTCG	ENSP00000439495.2:p.Ser380=
NM_001166107.1:c.1140_1145delinsATTTCG , LRG_447t2:c.1140_1145delinsATTTCG	NP_001159579.1:p.Ser380=
NM_005518.3:c.1266_1271delinsATTTCG , LRG_447t1:c.1266_1271delinsATTTCG	NP_005509.1:p.Ser422=
XM_011541313.1:c.1101_1106delinsATTTCG	XP_011539615.1:p.Ser367=
XM_011541313.2:c.1101_1106delinsATTTCG	XP_011539615.1:p.Ser367=
NM_005518.4:c.1266_1271delinsATTTCG MANE Select	NP_005509.1:p.Ser422=