Canonical Allele Identifier: CA2574042287

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119750787-TCTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119750793_119750796del , CM000663.2:g.119750793_119750796del	GRCh38
NC_000001.10:g.120293416_120293419del , CM000663.1:g.120293416_120293419del	GRCh37
NC_000001.9:g.120094939_120094942del	NCBI36
NG_013348.1:g.23142_23145del , LRG_447:g.23142_23145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.*5+6_*5+9del MANE Select	ENSP00000358414.3:n.*5+6_*5+9del
ENST00000369406.7:c.*5+6_*5+9del	ENSP00000358414.3:n.*5+6_*5+9del
ENST00000544913.2:c.*5+6_*5+9del	ENSP00000439495.2:n.*5+6_*5+9del
NM_001166107.1:c.*5+6_*5+9del , LRG_447t2:c.*5+6_*5+9del	NP_001159579.1:n.*5+6_*5+9del
NM_005518.3:c.*5+6_*5+9del , LRG_447t1:c.*5+6_*5+9del	NP_005509.1:n.*5+6_*5+9del
XM_011541313.1:c.*5+6_*5+9del	XP_011539615.1:n.*5+6_*5+9del
XM_011541313.2:c.*5+6_*5+9del	XP_011539615.1:n.*5+6_*5+9del
NM_005518.4:c.*5+6_*5+9del MANE Select	NP_005509.1:n.*5+6_*5+9del