Canonical Allele Identifier: CA813983691

Gene: HMGCR

Linked Data

• dbSNP Id: rs1174517333
• gnomAD v3: 5-75352507-TCAAGTGGTCTGCCTGCCTTGGCCTCC-T
• gnomAD v4: 5-75352507-TCAAGTGGTCTGCCTGCCTTGGCCTCC-T
• MyVariant Identifiers: chr5:g.74648333_74648358del (hg19) ; chr5:g.75352508_75352533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75352511_75352536del , CM000667.2:g.75352511_75352536del	GRCh38
NC_000005.9:g.74648336_74648361del , CM000667.1:g.74648336_74648361del	GRCh37
NC_000005.8:g.74684092_74684117del	NCBI36
NG_011449.1:g.20344_20369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.1368+909_1368+934del MANE Select	ENSP00000287936.4:n.1368+909_1368+934del
ENST00000679456.1:n.2205+909_2205+934del
ENST00000680160.1:c.1368+909_1368+934del	ENSP00000505315.1:n.1368+909_1368+934del
ENST00000680940.1:c.1368+909_1368+934del	ENSP00000505561.1:n.1368+909_1368+934del
ENST00000681271.1:c.1368+909_1368+934del	ENSP00000505805.1:n.1368+909_1368+934del
ENST00000681410.1:c.1368+909_1368+934del	ENSP00000506232.1:n.1368+909_1368+934del
ENST00000681567.1:c.*1917+909_*1917+934del	ENSP00000506708.1:n.*1917+909_*1917+934del
ENST00000287936.8:c.1368+909_1368+934del	ENSP00000287936.4:n.1368+909_1368+934del
ENST00000343975.9:c.1368+909_1368+934del	ENSP00000340816.5:n.1368+909_1368+934del
ENST00000511206.5:c.1368+909_1368+934del	ENSP00000426745.1:n.1368+909_1368+934del
NM_000859.2:c.1368+909_1368+934del	NP_000850.1:n.1368+909_1368+934del
NM_001130996.1:c.1368+909_1368+934del	NP_001124468.1:n.1368+909_1368+934del
XM_011543357.1:c.1428+909_1428+934del	XP_011541659.1:n.1428+909_1428+934del
XM_011543358.1:c.1368+909_1368+934del	XP_011541660.1:n.1368+909_1368+934del
XM_011543359.1:c.1428+909_1428+934del	XP_011541661.1:n.1428+909_1428+934del
NM_001364187.1:c.1368+909_1368+934del	NP_001351116.1:n.1368+909_1368+934del
NM_000859.3:c.1368+909_1368+934del MANE Select	NP_000850.1:n.1368+909_1368+934del
NM_001130996.2:c.1368+909_1368+934del	NP_001124468.1:n.1368+909_1368+934del