Canonical Allele Identifier: CA2322767249

Gene: LDLR

Linked Data

• dbSNP Id: rs2077265836

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105190_11105196del , CM000681.2:g.11105190_11105196del	GRCh38
NC_000019.9:g.11215866_11215872del , CM000681.1:g.11215866_11215872del	GRCh37
NC_000019.8:g.11076866_11076872del	NCBI36
NG_009060.1:g.20810_20816del , LRG_274:g.20810_20816del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.572-30_572-24del	ENSP00000252444.6:n.572-30_572-24del
ENST00000559340.2:c.314-30_314-24del	ENSP00000453696.2:n.314-30_314-24del
ENST00000560467.2:c.314-30_314-24del	ENSP00000453513.2:n.314-30_314-24del
ENST00000558518.6:c.314-30_314-24del MANE Select	ENSP00000454071.1:n.314-30_314-24del
ENST00000252444.9:c.568-30_568-24del
ENST00000455727.6:c.314-2202_314-2196del	ENSP00000397829.2:n.314-2202_314-2196del
ENST00000535915.5:c.191-30_191-24del	ENSP00000440520.1:n.191-30_191-24del
ENST00000545707.5:c.314-1375_314-1369del	ENSP00000437639.1:n.314-1375_314-1369del
ENST00000557933.5:c.314-30_314-24del	ENSP00000453557.1:n.314-30_314-24del
ENST00000558013.5:c.314-30_314-24del	ENSP00000453346.1:n.314-30_314-24del
ENST00000558518.5:c.314-30_314-24del	ENSP00000454071.1:n.314-30_314-24del
NM_000527.4:c.314-30_314-24del , LRG_274t1:c.314-30_314-24del	NP_000518.1:n.314-30_314-24del
NM_001195798.1:c.314-30_314-24del	NP_001182727.1:n.314-30_314-24del
NM_001195799.1:c.191-30_191-24del	NP_001182728.1:n.191-30_191-24del
NM_001195800.1:c.314-2202_314-2196del	NP_001182729.1:n.314-2202_314-2196del
NM_001195803.1:c.314-1375_314-1369del	NP_001182732.1:n.314-1375_314-1369del
XM_011528010.1:c.314-30_314-24del	XP_011526312.1:n.314-30_314-24del
XM_011528011.1:c.314-1375_314-1369del	XP_011526313.1:n.314-1375_314-1369del
XR_244074.2:n.464-30_464-24del
XM_011528010.2:c.314-30_314-24del	XP_011526312.1:n.314-30_314-24del
XR_001753685.2:n.431-30_431-24del
XR_001753686.2:n.431-30_431-24del
NM_000527.5:c.314-30_314-24del MANE Select	NP_000518.1:n.314-30_314-24del
NM_001195798.2:c.314-30_314-24del	NP_001182727.1:n.314-30_314-24del
NM_001195799.2:c.191-30_191-24del	NP_001182728.1:n.191-30_191-24del
NM_001195800.2:c.314-2202_314-2196del	NP_001182729.1:n.314-2202_314-2196del
NM_001195803.2:c.314-1375_314-1369del	NP_001182732.1:n.314-1375_314-1369del