Canonical Allele Identifier: CA560591027

Gene: HMGCR

Linked Data

• dbSNP Id: rs1189354159
• gnomAD v2: 5-74642823-AAGTG-A
• gnomAD v3: 5-75346998-AAGTG-A
• gnomAD v4: 5-75346998-AAGTG-A
• MyVariant Identifiers: chr5:g.74642824_74642827del (hg19) ; chr5:g.75346999_75347002del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75347001_75347004del , CM000667.2:g.75347001_75347004del	GRCh38
NC_000005.9:g.74642826_74642829del , CM000667.1:g.74642826_74642829del	GRCh37
NC_000005.8:g.74678582_74678585del	NCBI36
NG_011449.1:g.14834_14837del

Transcript Alleles

HGVS	Amino-acid change
ENST00000287936.9:c.451-203_451-200del MANE Select	ENSP00000287936.4:n.451-203_451-200del
ENST00000679456.1:n.1288-203_1288-200del
ENST00000680160.1:c.451-203_451-200del	ENSP00000505315.1:n.451-203_451-200del
ENST00000680940.1:c.451-203_451-200del	ENSP00000505561.1:n.451-203_451-200del
ENST00000681271.1:c.451-203_451-200del	ENSP00000505805.1:n.451-203_451-200del
ENST00000681410.1:c.451-203_451-200del	ENSP00000506232.1:n.451-203_451-200del
ENST00000681567.1:c.*1000-203_*1000-200del	ENSP00000506708.1:n.*1000-203_*1000-200del
ENST00000287936.8:c.451-203_451-200del	ENSP00000287936.4:n.451-203_451-200del
ENST00000343975.9:c.451-203_451-200del	ENSP00000340816.5:n.451-203_451-200del
ENST00000511206.5:c.451-203_451-200del	ENSP00000426745.1:n.451-203_451-200del
NM_000859.2:c.451-203_451-200del	NP_000850.1:n.451-203_451-200del
NM_001130996.1:c.451-203_451-200del	NP_001124468.1:n.451-203_451-200del
XM_011543357.1:c.511-203_511-200del	XP_011541659.1:n.511-203_511-200del
XM_011543358.1:c.451-203_451-200del	XP_011541660.1:n.451-203_451-200del
XM_011543359.1:c.511-203_511-200del	XP_011541661.1:n.511-203_511-200del
NM_001364187.1:c.451-203_451-200del	NP_001351116.1:n.451-203_451-200del
NM_000859.3:c.451-203_451-200del MANE Select	NP_000850.1:n.451-203_451-200del
NM_001130996.2:c.451-203_451-200del	NP_001124468.1:n.451-203_451-200del