Canonical Allele Identifier: CA2322771460

Gene: LDLR

Linked Data

• dbSNP Id: rs2077399089

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11112924_11112929del , CM000681.2:g.11112924_11112929del	GRCh38
NC_000019.9:g.11223600_11223605del , CM000681.1:g.11223600_11223605del	GRCh37
NC_000019.8:g.11084600_11084605del	NCBI36
NG_009060.1:g.28544_28549del , LRG_274:g.28544_28549del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1445-354_1445-349del	ENSP00000252444.6:n.1445-354_1445-349del
ENST00000559340.2:c.1187-354_1187-349del	ENSP00000453696.2:n.1187-354_1187-349del
ENST00000560467.2:c.1067-354_1067-349del	ENSP00000453513.2:n.1067-354_1067-349del
ENST00000558518.6:c.1187-354_1187-349del MANE Select	ENSP00000454071.1:n.1187-354_1187-349del
ENST00000252444.9:c.1441-354_1441-349del
ENST00000455727.6:c.683-354_683-349del	ENSP00000397829.2:n.683-354_683-349del
ENST00000535915.5:c.1064-354_1064-349del	ENSP00000440520.1:n.1064-354_1064-349del
ENST00000545707.5:c.806-354_806-349del	ENSP00000437639.1:n.806-354_806-349del
ENST00000557933.5:c.1187-354_1187-349del	ENSP00000453557.1:n.1187-354_1187-349del
ENST00000558013.5:c.1187-354_1187-349del	ENSP00000453346.1:n.1187-354_1187-349del
ENST00000558518.5:c.1187-354_1187-349del	ENSP00000454071.1:n.1187-354_1187-349del
ENST00000560173.1:n.186-354_186-349del
ENST00000560467.1:c.667-354_667-349del
NM_000527.4:c.1187-354_1187-349del , LRG_274t1:c.1187-354_1187-349del	NP_000518.1:n.1187-354_1187-349del
NM_001195798.1:c.1187-354_1187-349del	NP_001182727.1:n.1187-354_1187-349del
NM_001195799.1:c.1064-354_1064-349del	NP_001182728.1:n.1064-354_1064-349del
NM_001195800.1:c.683-354_683-349del	NP_001182729.1:n.683-354_683-349del
NM_001195803.1:c.806-354_806-349del	NP_001182732.1:n.806-354_806-349del
XM_011528010.1:c.1187-354_1187-349del	XP_011526312.1:n.1187-354_1187-349del
XM_011528011.1:c.806-354_806-349del	XP_011526313.1:n.806-354_806-349del
XR_244074.2:n.1337-354_1337-349del
XM_011528010.2:c.1187-354_1187-349del	XP_011526312.1:n.1187-354_1187-349del
XR_001753685.2:n.1304-354_1304-349del
XR_001753686.2:n.1304-354_1304-349del
NM_000527.5:c.1187-354_1187-349del MANE Select	NP_000518.1:n.1187-354_1187-349del
NM_001195798.2:c.1187-354_1187-349del	NP_001182727.1:n.1187-354_1187-349del
NM_001195799.2:c.1064-354_1064-349del	NP_001182728.1:n.1064-354_1064-349del
NM_001195800.2:c.683-354_683-349del	NP_001182729.1:n.683-354_683-349del
NM_001195803.2:c.806-354_806-349del	NP_001182732.1:n.806-354_806-349del