Canonical Allele Identifier: CA305302477

Gene: LDLR

Linked Data

• dbSNP Id: rs1008382466
• MyVariant Identifiers: chr19:g.11230346_11230347insAG (hg19) ; chr19:g.11119670_11119671insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11119671_11119672insGA , CM000681.2:g.11119671_11119672insGA	GRCh38
NC_000019.9:g.11230347_11230348insGA , CM000681.1:g.11230347_11230348insGA	GRCh37
NC_000019.8:g.11091347_11091348insGA	NCBI36
NG_009060.1:g.35291_35292insGA , LRG_274:g.35291_35292insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2104-421_2104-420insGA	ENSP00000252444.6:n.2104-421_2104-420insGA
ENST00000559340.2:c.1706-421_1706-420insGA	ENSP00000453696.2:n.1706-421_1706-420insGA
ENST00000560467.2:c.1726-421_1726-420insGA	ENSP00000453513.2:n.1726-421_1726-420insGA
ENST00000558518.6:c.1846-421_1846-420insGA MANE Select	ENSP00000454071.1:n.1846-421_1846-420insGA
ENST00000252444.9:c.2100-421_2100-420insGA
ENST00000455727.6:c.1342-421_1342-420insGA	ENSP00000397829.2:n.1342-421_1342-420insGA
ENST00000535915.5:c.1723-421_1723-420insGA	ENSP00000440520.1:n.1723-421_1723-420insGA
ENST00000545707.5:c.1465-421_1465-420insGA	ENSP00000437639.1:n.1465-421_1465-420insGA
ENST00000557933.5:c.1846-421_1846-420insGA	ENSP00000453557.1:n.1846-421_1846-420insGA
ENST00000558013.5:c.1846-421_1846-420insGA	ENSP00000453346.1:n.1846-421_1846-420insGA
ENST00000558518.5:c.1846-421_1846-420insGA	ENSP00000454071.1:n.1846-421_1846-420insGA
ENST00000559340.1:c.427-421_427-420insGA
NM_000527.4:c.1846-421_1846-420insGA , LRG_274t1:c.1846-421_1846-420insGA	NP_000518.1:n.1846-421_1846-420insGA
NM_001195798.1:c.1846-421_1846-420insGA	NP_001182727.1:n.1846-421_1846-420insGA
NM_001195799.1:c.1723-421_1723-420insGA	NP_001182728.1:n.1723-421_1723-420insGA
NM_001195800.1:c.1342-421_1342-420insGA	NP_001182729.1:n.1342-421_1342-420insGA
NM_001195803.1:c.1465-421_1465-420insGA	NP_001182732.1:n.1465-421_1465-420insGA
XM_011528010.1:c.1846-421_1846-420insGA	XP_011526312.1:n.1846-421_1846-420insGA
XM_011528011.1:c.1465-421_1465-420insGA	XP_011526313.1:n.1465-421_1465-420insGA
XR_244074.2:n.1856-421_1856-420insGA
XM_011528010.2:c.1846-421_1846-420insGA	XP_011526312.1:n.1846-421_1846-420insGA
XR_001753685.2:n.1963-421_1963-420insGA
XR_001753686.2:n.1823-421_1823-420insGA
NM_000527.5:c.1846-421_1846-420insGA MANE Select	NP_000518.1:n.1846-421_1846-420insGA
NM_001195798.2:c.1846-421_1846-420insGA	NP_001182727.1:n.1846-421_1846-420insGA
NM_001195799.2:c.1723-421_1723-420insGA	NP_001182728.1:n.1723-421_1723-420insGA
NM_001195800.2:c.1342-421_1342-420insGA	NP_001182729.1:n.1342-421_1342-420insGA
NM_001195803.2:c.1465-421_1465-420insGA	NP_001182732.1:n.1465-421_1465-420insGA