Canonical Allele Identifier: CA2322771631

Gene: LDLR

Linked Data

• dbSNP Id: rs2077404877

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113210_11113211insCACAAGTGGGATG , CM000681.2:g.11113210_11113211insCACAAGTGGGATG	GRCh38
NC_000019.9:g.11223886_11223887insCACAAGTGGGATG , CM000681.1:g.11223886_11223887insCACAAGTGGGATG	GRCh37
NC_000019.8:g.11084886_11084887insCACAAGTGGGATG	NCBI36
NG_009060.1:g.28830_28831insCACAAGTGGGATG , LRG_274:g.28830_28831insCACAAGTGGGATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1445-68_1445-67insCACAAGTGGGATG	ENSP00000252444.6:n.1445-68_1445-67insCAC...
ENST00000559340.2:c.1187-68_1187-67insCACAAGTGGGATG	ENSP00000453696.2:n.1187-68_1187-67insCAC...
ENST00000560467.2:c.1067-68_1067-67insCACAAGTGGGATG	ENSP00000453513.2:n.1067-68_1067-67insCAC...
ENST00000558518.6:c.1187-68_1187-67insCACAAGTGGGATG MANE Select	ENSP00000454071.1:n.1187-68_1187-67insCAC...
ENST00000252444.9:c.1441-68_1441-67insCACAAGTGGGATG
ENST00000455727.6:c.683-68_683-67insCACAAGTGGGATG	ENSP00000397829.2:n.683-68_683-67insCACAA...
ENST00000535915.5:c.1064-68_1064-67insCACAAGTGGGATG	ENSP00000440520.1:n.1064-68_1064-67insCAC...
ENST00000545707.5:c.806-68_806-67insCACAAGTGGGATG	ENSP00000437639.1:n.806-68_806-67insCACAA...
ENST00000557933.5:c.1187-68_1187-67insCACAAGTGGGATG	ENSP00000453557.1:n.1187-68_1187-67insCAC...
ENST00000558013.5:c.1187-68_1187-67insCACAAGTGGGATG	ENSP00000453346.1:n.1187-68_1187-67insCAC...
ENST00000558518.5:c.1187-68_1187-67insCACAAGTGGGATG	ENSP00000454071.1:n.1187-68_1187-67insCAC...
ENST00000560173.1:n.186-68_186-67insCACAAGTGGGATG
ENST00000560467.1:c.667-68_667-67insCACAAGTGGGATG
NM_000527.4:c.1187-68_1187-67insCACAAGTGGGATG , LRG_274t1:c.1187-68_1187-67insCACAAGTGGGATG	NP_000518.1:n.1187-68_1187-67insCACAAGTGG...
NM_001195798.1:c.1187-68_1187-67insCACAAGTGGGATG	NP_001182727.1:n.1187-68_1187-67insCACAAG...
NM_001195799.1:c.1064-68_1064-67insCACAAGTGGGATG	NP_001182728.1:n.1064-68_1064-67insCACAAG...
NM_001195800.1:c.683-68_683-67insCACAAGTGGGATG	NP_001182729.1:n.683-68_683-67insCACAAGTG...
NM_001195803.1:c.806-68_806-67insCACAAGTGGGATG	NP_001182732.1:n.806-68_806-67insCACAAGTG...
XM_011528010.1:c.1187-68_1187-67insCACAAGTGGGATG	XP_011526312.1:n.1187-68_1187-67insCACAAG...
XM_011528011.1:c.806-68_806-67insCACAAGTGGGATG	XP_011526313.1:n.806-68_806-67insCACAAGTG...
XR_244074.2:n.1337-68_1337-67insCACAAGTGGGATG
XM_011528010.2:c.1187-68_1187-67insCACAAGTGGGATG	XP_011526312.1:n.1187-68_1187-67insCACAAG...
XR_001753685.2:n.1304-68_1304-67insCACAAGTGGGATG
XR_001753686.2:n.1304-68_1304-67insCACAAGTGGGATG
NM_000527.5:c.1187-68_1187-67insCACAAGTGGGATG MANE Select	NP_000518.1:n.1187-68_1187-67insCACAAGTGG...
NM_001195798.2:c.1187-68_1187-67insCACAAGTGGGATG	NP_001182727.1:n.1187-68_1187-67insCACAAG...
NM_001195799.2:c.1064-68_1064-67insCACAAGTGGGATG	NP_001182728.1:n.1064-68_1064-67insCACAAG...
NM_001195800.2:c.683-68_683-67insCACAAGTGGGATG	NP_001182729.1:n.683-68_683-67insCACAAGTG...
NM_001195803.2:c.806-68_806-67insCACAAGTGGGATG	NP_001182732.1:n.806-68_806-67insCACAAGTG...