Canonical Allele Identifier: CA2735335759

Gene: LDLR

Linked Data

• dbSNP Id: rs35653724

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119847_11119848del , CM000681.2:g.11119847_11119848del	GRCh38
NC_000019.9:g.11230523_11230524del , CM000681.1:g.11230523_11230524del	GRCh37
NC_000019.8:g.11091523_11091524del	NCBI36
NG_009060.1:g.35467_35468del , LRG_274:g.35467_35468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-245_2104-244del	ENSP00000252444.6:n.2104-245_2104-244del
ENST00000559340.2:c.1706-245_1706-244del	ENSP00000453696.2:n.1706-245_1706-244del
ENST00000560467.2:c.1726-245_1726-244del	ENSP00000453513.2:n.1726-245_1726-244del
ENST00000558518.6:c.1846-245_1846-244del MANE Select	ENSP00000454071.1:n.1846-245_1846-244del
ENST00000252444.9:c.2100-245_2100-244del
ENST00000455727.6:c.1342-245_1342-244del	ENSP00000397829.2:n.1342-245_1342-244del
ENST00000535915.5:c.1723-245_1723-244del	ENSP00000440520.1:n.1723-245_1723-244del
ENST00000545707.5:c.1465-245_1465-244del	ENSP00000437639.1:n.1465-245_1465-244del
ENST00000557933.5:c.1846-245_1846-244del	ENSP00000453557.1:n.1846-245_1846-244del
ENST00000558013.5:c.1846-245_1846-244del	ENSP00000453346.1:n.1846-245_1846-244del
ENST00000558518.5:c.1846-245_1846-244del	ENSP00000454071.1:n.1846-245_1846-244del
ENST00000559340.1:c.427-245_427-244del
NM_000527.4:c.1846-245_1846-244del , LRG_274t1:c.1846-245_1846-244del	NP_000518.1:n.1846-245_1846-244del
NM_001195798.1:c.1846-245_1846-244del	NP_001182727.1:n.1846-245_1846-244del
NM_001195799.1:c.1723-245_1723-244del	NP_001182728.1:n.1723-245_1723-244del
NM_001195800.1:c.1342-245_1342-244del	NP_001182729.1:n.1342-245_1342-244del
NM_001195803.1:c.1465-245_1465-244del	NP_001182732.1:n.1465-245_1465-244del
XM_011528010.1:c.1846-245_1846-244del	XP_011526312.1:n.1846-245_1846-244del
XM_011528011.1:c.1465-245_1465-244del	XP_011526313.1:n.1465-245_1465-244del
XR_244074.2:n.1856-245_1856-244del
XM_011528010.2:c.1846-245_1846-244del	XP_011526312.1:n.1846-245_1846-244del
XR_001753685.2:n.1963-245_1963-244del
XR_001753686.2:n.1823-245_1823-244del
NM_000527.5:c.1846-245_1846-244del MANE Select	NP_000518.1:n.1846-245_1846-244del
NM_001195798.2:c.1846-245_1846-244del	NP_001182727.1:n.1846-245_1846-244del
NM_001195799.2:c.1723-245_1723-244del	NP_001182728.1:n.1723-245_1723-244del
NM_001195800.2:c.1342-245_1342-244del	NP_001182729.1:n.1342-245_1342-244del
NM_001195803.2:c.1465-245_1465-244del	NP_001182732.1:n.1465-245_1465-244del