Canonical Allele Identifier: CA2322775085

Gene: LDLR

Linked Data

• dbSNP Id: rs2077514244

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119637_11119638insAGTGA , CM000681.2:g.11119637_11119638insAGTGA	GRCh38
NC_000019.9:g.11230313_11230314insAGTGA , CM000681.1:g.11230313_11230314insAGTGA	GRCh37
NC_000019.8:g.11091313_11091314insAGTGA	NCBI36
NG_009060.1:g.35257_35258insAGTGA , LRG_274:g.35257_35258insAGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-455_2104-454insAGTGA	ENSP00000252444.6:n.2104-455_2104-454insAGTGA
ENST00000559340.2:c.1706-455_1706-454insAGTGA	ENSP00000453696.2:n.1706-455_1706-454insAGTGA
ENST00000560467.2:c.1726-455_1726-454insAGTGA	ENSP00000453513.2:n.1726-455_1726-454insAGTGA
ENST00000558518.6:c.1846-455_1846-454insAGTGA MANE Select	ENSP00000454071.1:n.1846-455_1846-454insAGTGA
ENST00000252444.9:c.2100-455_2100-454insAGTGA
ENST00000455727.6:c.1342-455_1342-454insAGTGA	ENSP00000397829.2:n.1342-455_1342-454insAGTGA
ENST00000535915.5:c.1723-455_1723-454insAGTGA	ENSP00000440520.1:n.1723-455_1723-454insAGTGA
ENST00000545707.5:c.1465-455_1465-454insAGTGA	ENSP00000437639.1:n.1465-455_1465-454insAGTGA
ENST00000557933.5:c.1846-455_1846-454insAGTGA	ENSP00000453557.1:n.1846-455_1846-454insAGTGA
ENST00000558013.5:c.1846-455_1846-454insAGTGA	ENSP00000453346.1:n.1846-455_1846-454insAGTGA
ENST00000558518.5:c.1846-455_1846-454insAGTGA	ENSP00000454071.1:n.1846-455_1846-454insAGTGA
ENST00000559340.1:c.427-455_427-454insAGTGA
NM_000527.4:c.1846-455_1846-454insAGTGA , LRG_274t1:c.1846-455_1846-454insAGTGA	NP_000518.1:n.1846-455_1846-454insAGTGA
NM_001195798.1:c.1846-455_1846-454insAGTGA	NP_001182727.1:n.1846-455_1846-454insAGTGA
NM_001195799.1:c.1723-455_1723-454insAGTGA	NP_001182728.1:n.1723-455_1723-454insAGTGA
NM_001195800.1:c.1342-455_1342-454insAGTGA	NP_001182729.1:n.1342-455_1342-454insAGTGA
NM_001195803.1:c.1465-455_1465-454insAGTGA	NP_001182732.1:n.1465-455_1465-454insAGTGA
XM_011528010.1:c.1846-455_1846-454insAGTGA	XP_011526312.1:n.1846-455_1846-454insAGTGA
XM_011528011.1:c.1465-455_1465-454insAGTGA	XP_011526313.1:n.1465-455_1465-454insAGTGA
XR_244074.2:n.1856-455_1856-454insAGTGA
XM_011528010.2:c.1846-455_1846-454insAGTGA	XP_011526312.1:n.1846-455_1846-454insAGTGA
XR_001753685.2:n.1963-455_1963-454insAGTGA
XR_001753686.2:n.1823-455_1823-454insAGTGA
NM_000527.5:c.1846-455_1846-454insAGTGA MANE Select	NP_000518.1:n.1846-455_1846-454insAGTGA
NM_001195798.2:c.1846-455_1846-454insAGTGA	NP_001182727.1:n.1846-455_1846-454insAGTGA
NM_001195799.2:c.1723-455_1723-454insAGTGA	NP_001182728.1:n.1723-455_1723-454insAGTGA
NM_001195800.2:c.1342-455_1342-454insAGTGA	NP_001182729.1:n.1342-455_1342-454insAGTGA
NM_001195803.2:c.1465-455_1465-454insAGTGA	NP_001182732.1:n.1465-455_1465-454insAGTGA