Canonical Allele Identifier: CA2674266563

Gene: HMGCR

Linked Data

• gnomAD v4: 5-75355256-ATAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75355261_75355264del , CM000667.2:g.75355261_75355264del	GRCh38
NC_000005.9:g.74651086_74651089del , CM000667.1:g.74651086_74651089del	GRCh37
NC_000005.8:g.74686842_74686845del	NCBI36
NG_011449.1:g.23094_23097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287936.9:c.1722+47_1722+50del MANE Select	ENSP00000287936.4:n.1722+47_1722+50del
ENST00000679456.1:n.2559+47_2559+50del
ENST00000680160.1:c.1722+47_1722+50del	ENSP00000505315.1:n.1722+47_1722+50del
ENST00000680940.1:c.1722+47_1722+50del	ENSP00000505561.1:n.1722+47_1722+50del
ENST00000681271.1:c.1722+47_1722+50del	ENSP00000505805.1:n.1722+47_1722+50del
ENST00000681410.1:c.1722+47_1722+50del	ENSP00000506232.1:n.1722+47_1722+50del
ENST00000681567.1:c.*2271+47_*2271+50del	ENSP00000506708.1:n.*2271+47_*2271+50del
ENST00000287936.8:c.1722+47_1722+50del	ENSP00000287936.4:n.1722+47_1722+50del
ENST00000343975.9:c.1564-104_1564-101del	ENSP00000340816.5:n.1564-104_1564-101del
ENST00000508070.1:n.82_85del
ENST00000511206.5:c.1722+47_1722+50del	ENSP00000426745.1:n.1722+47_1722+50del
NM_000859.2:c.1722+47_1722+50del	NP_000850.1:n.1722+47_1722+50del
NM_001130996.1:c.1564-104_1564-101del	NP_001124468.1:n.1564-104_1564-101del
XM_011543357.1:c.1782+47_1782+50del	XP_011541659.1:n.1782+47_1782+50del
XM_011543358.1:c.1722+47_1722+50del	XP_011541660.1:n.1722+47_1722+50del
XM_011543359.1:c.1624-104_1624-101del	XP_011541661.1:n.1624-104_1624-101del
NM_001364187.1:c.1722+47_1722+50del	NP_001351116.1:n.1722+47_1722+50del
NM_000859.3:c.1722+47_1722+50del MANE Select	NP_000850.1:n.1722+47_1722+50del
NM_001130996.2:c.1564-104_1564-101del	NP_001124468.1:n.1564-104_1564-101del