Canonical Allele Identifier: CA2582475328

Gene: LDLR

Linked Data

• gnomAD v4: 19-11120006-CAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120011_11120013del , CM000681.2:g.11120011_11120013del	GRCh38
NC_000019.9:g.11230687_11230689del , CM000681.1:g.11230687_11230689del	GRCh37
NC_000019.8:g.11091687_11091689del	NCBI36
NG_009060.1:g.35631_35633del , LRG_274:g.35631_35633del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2104-81_2104-79del	ENSP00000252444.6:n.2104-81_2104-79del
ENST00000559340.2:c.1706-81_1706-79del	ENSP00000453696.2:n.1706-81_1706-79del
ENST00000560467.2:c.1726-81_1726-79del	ENSP00000453513.2:n.1726-81_1726-79del
ENST00000558518.6:c.1846-81_1846-79del MANE Select	ENSP00000454071.1:n.1846-81_1846-79del
ENST00000252444.9:c.2100-81_2100-79del
ENST00000455727.6:c.1342-81_1342-79del	ENSP00000397829.2:n.1342-81_1342-79del
ENST00000535915.5:c.1723-81_1723-79del	ENSP00000440520.1:n.1723-81_1723-79del
ENST00000545707.5:c.1465-81_1465-79del	ENSP00000437639.1:n.1465-81_1465-79del
ENST00000557933.5:c.1846-81_1846-79del	ENSP00000453557.1:n.1846-81_1846-79del
ENST00000558013.5:c.1846-81_1846-79del	ENSP00000453346.1:n.1846-81_1846-79del
ENST00000558518.5:c.1846-81_1846-79del	ENSP00000454071.1:n.1846-81_1846-79del
ENST00000559340.1:c.427-81_427-79del
NM_000527.4:c.1846-81_1846-79del , LRG_274t1:c.1846-81_1846-79del	NP_000518.1:n.1846-81_1846-79del
NM_001195798.1:c.1846-81_1846-79del	NP_001182727.1:n.1846-81_1846-79del
NM_001195799.1:c.1723-81_1723-79del	NP_001182728.1:n.1723-81_1723-79del
NM_001195800.1:c.1342-81_1342-79del	NP_001182729.1:n.1342-81_1342-79del
NM_001195803.1:c.1465-81_1465-79del	NP_001182732.1:n.1465-81_1465-79del
XM_011528010.1:c.1846-81_1846-79del	XP_011526312.1:n.1846-81_1846-79del
XM_011528011.1:c.1465-81_1465-79del	XP_011526313.1:n.1465-81_1465-79del
XR_244074.2:n.1856-81_1856-79del
XM_011528010.2:c.1846-81_1846-79del	XP_011526312.1:n.1846-81_1846-79del
XR_001753685.2:n.1963-81_1963-79del
XR_001753686.2:n.1823-81_1823-79del
NM_000527.5:c.1846-81_1846-79del MANE Select	NP_000518.1:n.1846-81_1846-79del
NM_001195798.2:c.1846-81_1846-79del	NP_001182727.1:n.1846-81_1846-79del
NM_001195799.2:c.1723-81_1723-79del	NP_001182728.1:n.1723-81_1723-79del
NM_001195800.2:c.1342-81_1342-79del	NP_001182729.1:n.1342-81_1342-79del
NM_001195803.2:c.1465-81_1465-79del	NP_001182732.1:n.1465-81_1465-79del