Canonical Allele Identifier: CA2647400618

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119759946-GGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759947_119759949del , CM000663.2:g.119759947_119759949del	GRCh38
NC_000001.10:g.120302570_120302572del , CM000663.1:g.120302570_120302572del	GRCh37
NC_000001.9:g.120104093_120104095del	NCBI36
NG_013348.1:g.13984_13986del , LRG_447:g.13984_13986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.600_602del MANE Select	ENSP00000358414.3:p.Pro201del
ENST00000369406.7:c.600_602del	ENSP00000358414.3:p.Pro201del
ENST00000476640.1:n.496_498del
ENST00000544913.2:c.560-667_560-665del	ENSP00000439495.2:n.560-667_560-665del
NM_001166107.1:c.560-667_560-665del , LRG_447t2:c.560-667_560-665del	NP_001159579.1:n.560-667_560-665del
NM_005518.3:c.600_602del , LRG_447t1:c.600_602del	NP_005509.1:p.Pro201del
XM_011541313.1:c.600_602del	XP_011539615.1:p.Pro201del
XM_011541313.2:c.600_602del	XP_011539615.1:p.Pro201del
NM_005518.4:c.600_602del MANE Select	NP_005509.1:p.Pro201del