Canonical Allele Identifier: CA2582475289

Gene: LDLR

Linked Data

• gnomAD v4: 19-11119965-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119968_11119969del , CM000681.2:g.11119968_11119969del	GRCh38
NC_000019.9:g.11230644_11230645del , CM000681.1:g.11230644_11230645del	GRCh37
NC_000019.8:g.11091644_11091645del	NCBI36
NG_009060.1:g.35588_35589del , LRG_274:g.35588_35589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-124_2104-123del	ENSP00000252444.6:n.2104-124_2104-123del
ENST00000559340.2:c.1706-124_1706-123del	ENSP00000453696.2:n.1706-124_1706-123del
ENST00000560467.2:c.1726-124_1726-123del	ENSP00000453513.2:n.1726-124_1726-123del
ENST00000558518.6:c.1846-124_1846-123del MANE Select	ENSP00000454071.1:n.1846-124_1846-123del
ENST00000252444.9:c.2100-124_2100-123del
ENST00000455727.6:c.1342-124_1342-123del	ENSP00000397829.2:n.1342-124_1342-123del
ENST00000535915.5:c.1723-124_1723-123del	ENSP00000440520.1:n.1723-124_1723-123del
ENST00000545707.5:c.1465-124_1465-123del	ENSP00000437639.1:n.1465-124_1465-123del
ENST00000557933.5:c.1846-124_1846-123del	ENSP00000453557.1:n.1846-124_1846-123del
ENST00000558013.5:c.1846-124_1846-123del	ENSP00000453346.1:n.1846-124_1846-123del
ENST00000558518.5:c.1846-124_1846-123del	ENSP00000454071.1:n.1846-124_1846-123del
ENST00000559340.1:c.427-124_427-123del
NM_000527.4:c.1846-124_1846-123del , LRG_274t1:c.1846-124_1846-123del	NP_000518.1:n.1846-124_1846-123del
NM_001195798.1:c.1846-124_1846-123del	NP_001182727.1:n.1846-124_1846-123del
NM_001195799.1:c.1723-124_1723-123del	NP_001182728.1:n.1723-124_1723-123del
NM_001195800.1:c.1342-124_1342-123del	NP_001182729.1:n.1342-124_1342-123del
NM_001195803.1:c.1465-124_1465-123del	NP_001182732.1:n.1465-124_1465-123del
XM_011528010.1:c.1846-124_1846-123del	XP_011526312.1:n.1846-124_1846-123del
XM_011528011.1:c.1465-124_1465-123del	XP_011526313.1:n.1465-124_1465-123del
XR_244074.2:n.1856-124_1856-123del
XM_011528010.2:c.1846-124_1846-123del	XP_011526312.1:n.1846-124_1846-123del
XR_001753685.2:n.1963-124_1963-123del
XR_001753686.2:n.1823-124_1823-123del
NM_000527.5:c.1846-124_1846-123del MANE Select	NP_000518.1:n.1846-124_1846-123del
NM_001195798.2:c.1846-124_1846-123del	NP_001182727.1:n.1846-124_1846-123del
NM_001195799.2:c.1723-124_1723-123del	NP_001182728.1:n.1723-124_1723-123del
NM_001195800.2:c.1342-124_1342-123del	NP_001182729.1:n.1342-124_1342-123del
NM_001195803.2:c.1465-124_1465-123del	NP_001182732.1:n.1465-124_1465-123del