Canonical Allele Identifier: CA2674263064

Gene: HMGCR

Linked Data

• gnomAD v4: 5-75347071-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75347073_75347074del , CM000667.2:g.75347073_75347074del	GRCh38
NC_000005.9:g.74642898_74642899del , CM000667.1:g.74642898_74642899del	GRCh37
NC_000005.8:g.74678654_74678655del	NCBI36
NG_011449.1:g.14906_14907del

Transcript Alleles

HGVS	Amino-acid change
ENST00000287936.9:c.451-131_451-130del MANE Select	ENSP00000287936.4:n.451-131_451-130del
ENST00000679456.1:n.1288-131_1288-130del
ENST00000680160.1:c.451-131_451-130del	ENSP00000505315.1:n.451-131_451-130del
ENST00000680940.1:c.451-131_451-130del	ENSP00000505561.1:n.451-131_451-130del
ENST00000681271.1:c.451-131_451-130del	ENSP00000505805.1:n.451-131_451-130del
ENST00000681410.1:c.451-131_451-130del	ENSP00000506232.1:n.451-131_451-130del
ENST00000681567.1:c.*1000-131_*1000-130del	ENSP00000506708.1:n.*1000-131_*1000-130de...
ENST00000287936.8:c.451-131_451-130del	ENSP00000287936.4:n.451-131_451-130del
ENST00000343975.9:c.451-131_451-130del	ENSP00000340816.5:n.451-131_451-130del
ENST00000511206.5:c.451-131_451-130del	ENSP00000426745.1:n.451-131_451-130del
NM_000859.2:c.451-131_451-130del	NP_000850.1:n.451-131_451-130del
NM_001130996.1:c.451-131_451-130del	NP_001124468.1:n.451-131_451-130del
XM_011543357.1:c.511-131_511-130del	XP_011541659.1:n.511-131_511-130del
XM_011543358.1:c.451-131_451-130del	XP_011541660.1:n.451-131_451-130del
XM_011543359.1:c.511-131_511-130del	XP_011541661.1:n.511-131_511-130del
NM_001364187.1:c.451-131_451-130del	NP_001351116.1:n.451-131_451-130del
NM_000859.3:c.451-131_451-130del MANE Select	NP_000850.1:n.451-131_451-130del
NM_001130996.2:c.451-131_451-130del	NP_001124468.1:n.451-131_451-130del