Canonical Allele Identifier: CA657201241

Gene: LDLR

Linked Data

• COSMIC: COSN18742035

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113157_11113158del , CM000681.2:g.11113157_11113158del	GRCh38
NC_000019.9:g.11223833_11223834del , CM000681.1:g.11223833_11223834del	GRCh37
NC_000019.8:g.11084833_11084834del	NCBI36
NG_009060.1:g.28777_28778del , LRG_274:g.28777_28778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1445-121_1445-120del	ENSP00000252444.6:n.1445-121_1445-120del
ENST00000559340.2:c.1187-121_1187-120del	ENSP00000453696.2:n.1187-121_1187-120del
ENST00000560467.2:c.1067-121_1067-120del	ENSP00000453513.2:n.1067-121_1067-120del
ENST00000558518.6:c.1187-121_1187-120del MANE Select	ENSP00000454071.1:n.1187-121_1187-120del
ENST00000252444.9:c.1441-121_1441-120del
ENST00000455727.6:c.683-121_683-120del	ENSP00000397829.2:n.683-121_683-120del
ENST00000535915.5:c.1064-121_1064-120del	ENSP00000440520.1:n.1064-121_1064-120del
ENST00000545707.5:c.806-121_806-120del	ENSP00000437639.1:n.806-121_806-120del
ENST00000557933.5:c.1187-121_1187-120del	ENSP00000453557.1:n.1187-121_1187-120del
ENST00000558013.5:c.1187-121_1187-120del	ENSP00000453346.1:n.1187-121_1187-120del
ENST00000558518.5:c.1187-121_1187-120del	ENSP00000454071.1:n.1187-121_1187-120del
ENST00000560173.1:n.186-121_186-120del
ENST00000560467.1:c.667-121_667-120del
NM_000527.4:c.1187-121_1187-120del , LRG_274t1:c.1187-121_1187-120del	NP_000518.1:n.1187-121_1187-120del
NM_001195798.1:c.1187-121_1187-120del	NP_001182727.1:n.1187-121_1187-120del
NM_001195799.1:c.1064-121_1064-120del	NP_001182728.1:n.1064-121_1064-120del
NM_001195800.1:c.683-121_683-120del	NP_001182729.1:n.683-121_683-120del
NM_001195803.1:c.806-121_806-120del	NP_001182732.1:n.806-121_806-120del
XM_011528010.1:c.1187-121_1187-120del	XP_011526312.1:n.1187-121_1187-120del
XM_011528011.1:c.806-121_806-120del	XP_011526313.1:n.806-121_806-120del
XR_244074.2:n.1337-121_1337-120del
XM_011528010.2:c.1187-121_1187-120del	XP_011526312.1:n.1187-121_1187-120del
XR_001753685.2:n.1304-121_1304-120del
XR_001753686.2:n.1304-121_1304-120del
NM_000527.5:c.1187-121_1187-120del MANE Select	NP_000518.1:n.1187-121_1187-120del
NM_001195798.2:c.1187-121_1187-120del	NP_001182727.1:n.1187-121_1187-120del
NM_001195799.2:c.1064-121_1064-120del	NP_001182728.1:n.1064-121_1064-120del
NM_001195800.2:c.683-121_683-120del	NP_001182729.1:n.683-121_683-120del
NM_001195803.2:c.806-121_806-120del	NP_001182732.1:n.806-121_806-120del