Canonical Allele Identifier: CA2674266527

Gene: HMGCR

Linked Data

• gnomAD v4: 5-75355214-TGTAAGTTGGCATTTATATATTTGCCAGTTTAAAAATACATCATAAGTAAGGCAATGAGAAGAGTTTTAAGGACAATTAGTGATACCTTTTGGGTCAAGCATGAGCATTTTTGGGTAACATGTGCTTGCTTCTCTAACATATACTGTGTAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.75355215_75355364del , CM000667.2:g.75355215_75355364del	GRCh38
NC_000005.9:g.74651040_74651189del , CM000667.1:g.74651040_74651189del	GRCh37
NC_000005.8:g.74686796_74686945del	NCBI36
NG_011449.1:g.23048_23197del

Transcript Alleles

HGVS	Amino-acid change
ENST00000287936.9:c.1722+1_1723-1del MANE Select	ENSP00000287936.4:n.1722+1_1723-1del
ENST00000679456.1:n.2559+1_2560-1del
ENST00000680160.1:c.1722+1_1723-1del	ENSP00000505315.1:n.1722+1_1723-1del
ENST00000680940.1:c.1722+1_1723-1del	ENSP00000505561.1:n.1722+1_1723-1del
ENST00000681271.1:c.1722+1_1723-1del	ENSP00000505805.1:n.1722+1_1723-1del
ENST00000681410.1:c.1722+1_1723-1del	ENSP00000506232.1:n.1722+1_1723-1del
ENST00000681567.1:c.*2271+1_*2272-1del	ENSP00000506708.1:n.*2271+1_*2272-1del
ENST00000287936.8:c.1722+1_1723-1del	ENSP00000287936.4:n.1722+1_1723-1del
ENST00000343975.9:c.1564-150_1564-1del	ENSP00000340816.5:n.1564-150_1564-1del
ENST00000508070.1:n.36_185del
ENST00000511206.5:c.1722+1_1723-1del	ENSP00000426745.1:n.1722+1_1723-1del
NM_000859.2:c.1722+1_1723-1del	NP_000850.1:n.1722+1_1723-1del
NM_001130996.1:c.1564-150_1564-1del	NP_001124468.1:n.1564-150_1564-1del
XM_011543357.1:c.1782+1_1783-1del	XP_011541659.1:n.1782+1_1783-1del
XM_011543358.1:c.1722+1_1723-1del	XP_011541660.1:n.1722+1_1723-1del
XM_011543359.1:c.1624-150_1624-1del	XP_011541661.1:n.1624-150_1624-1del
NM_001364187.1:c.1722+1_1723-1del	NP_001351116.1:n.1722+1_1723-1del
NM_000859.3:c.1722+1_1723-1del MANE Select	NP_000850.1:n.1722+1_1723-1del
NM_001130996.2:c.1564-150_1564-1del	NP_001124468.1:n.1564-150_1564-1del