Canonical Allele Identifier: CA560589671

Gene: HMGCR

Linked Data

• dbSNP Id: rs1391585796
• gnomAD v2: 5-74636375-C-CATT
• gnomAD v3: 5-75340550-C-CATT
• gnomAD v4: 5-75340550-C-CATT
• MyVariant Identifiers: chr5:g.74636375_74636376insATT (hg19) ; chr5:g.75340550_75340551insATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75340551_75340553dup , CM000667.2:g.75340551_75340553dup	GRCh38
NC_000005.9:g.74636376_74636378dup , CM000667.1:g.74636376_74636378dup	GRCh37
NC_000005.8:g.74672132_74672134dup	NCBI36
NG_011449.1:g.8384_8386dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.-23-2032_-23-2030dup MANE Select	ENSP00000287936.4:n.-23-2032_-23-2030dup
ENST00000679456.1:n.122-2032_122-2030dup
ENST00000680160.1:c.-23-2032_-23-2030dup	ENSP00000505315.1:n.-23-2032_-23-2030dup
ENST00000680940.1:c.-161_-159dup	ENSP00000505561.1:n.-161_-159dup
ENST00000681271.1:c.-23-2032_-23-2030dup	ENSP00000505805.1:n.-23-2032_-23-2030dup
ENST00000681410.1:c.-23-2032_-23-2030dup	ENSP00000506232.1:n.-23-2032_-23-2030dup
ENST00000681567.1:c.-23-2032_-23-2030dup	ENSP00000506708.1:n.-23-2032_-23-2030dup
ENST00000287936.8:c.-23-2032_-23-2030dup	ENSP00000287936.4:n.-23-2032_-23-2030dup
ENST00000343975.9:c.-23-2032_-23-2030dup	ENSP00000340816.5:n.-23-2032_-23-2030dup
ENST00000442032.2:c.-24+830_-24+832dup	ENSP00000409100.2:n.-24+830_-24+832dup
ENST00000507942.1:c.-23-2032_-23-2030dup	ENSP00000427340.1:n.-23-2032_-23-2030dup
ENST00000509431.1:n.56-2032_56-2030dup
ENST00000511206.5:c.-23-2032_-23-2030dup	ENSP00000426745.1:n.-23-2032_-23-2030dup
NM_000859.2:c.-23-2032_-23-2030dup	NP_000850.1:n.-23-2032_-23-2030dup
NM_001130996.1:c.-23-2032_-23-2030dup	NP_001124468.1:n.-23-2032_-23-2030dup
XM_011543357.1:c.38-2032_38-2030dup	XP_011541659.1:n.38-2032_38-2030dup
XM_011543358.1:c.-23-2032_-23-2030dup	XP_011541660.1:n.-23-2032_-23-2030dup
XM_011543359.1:c.38-2032_38-2030dup	XP_011541661.1:n.38-2032_38-2030dup
NM_001364187.1:c.-23-2032_-23-2030dup	NP_001351116.1:n.-23-2032_-23-2030dup
NM_000859.3:c.-23-2032_-23-2030dup MANE Select	NP_000850.1:n.-23-2032_-23-2030dup
NM_001130996.2:c.-23-2032_-23-2030dup	NP_001124468.1:n.-23-2032_-23-2030dup