Canonical Allele Identifier: CA993516706

Gene: LDLR

Linked Data

• gnomAD v3: 19-11113011-TGGCAATAAGGTCTCA-T
• gnomAD v4: 19-11113011-TGGCAATAAGGTCTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113012_11113026del , CM000681.2:g.11113012_11113026del	GRCh38
NC_000019.9:g.11223688_11223702del , CM000681.1:g.11223688_11223702del	GRCh37
NC_000019.8:g.11084688_11084702del	NCBI36
NG_009060.1:g.28632_28646del , LRG_274:g.28632_28646del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1445-266_1445-252del	ENSP00000252444.6:n.1445-266_1445-252del
ENST00000559340.2:c.1187-266_1187-252del	ENSP00000453696.2:n.1187-266_1187-252del
ENST00000560467.2:c.1067-266_1067-252del	ENSP00000453513.2:n.1067-266_1067-252del
ENST00000558518.6:c.1187-266_1187-252del MANE Select	ENSP00000454071.1:n.1187-266_1187-252del
ENST00000252444.9:c.1441-266_1441-252del
ENST00000455727.6:c.683-266_683-252del	ENSP00000397829.2:n.683-266_683-252del
ENST00000535915.5:c.1064-266_1064-252del	ENSP00000440520.1:n.1064-266_1064-252del
ENST00000545707.5:c.806-266_806-252del	ENSP00000437639.1:n.806-266_806-252del
ENST00000557933.5:c.1187-266_1187-252del	ENSP00000453557.1:n.1187-266_1187-252del
ENST00000558013.5:c.1187-266_1187-252del	ENSP00000453346.1:n.1187-266_1187-252del
ENST00000558518.5:c.1187-266_1187-252del	ENSP00000454071.1:n.1187-266_1187-252del
ENST00000560173.1:n.186-266_186-252del
ENST00000560467.1:c.667-266_667-252del
NM_000527.4:c.1187-266_1187-252del , LRG_274t1:c.1187-266_1187-252del	NP_000518.1:n.1187-266_1187-252del
NM_001195798.1:c.1187-266_1187-252del	NP_001182727.1:n.1187-266_1187-252del
NM_001195799.1:c.1064-266_1064-252del	NP_001182728.1:n.1064-266_1064-252del
NM_001195800.1:c.683-266_683-252del	NP_001182729.1:n.683-266_683-252del
NM_001195803.1:c.806-266_806-252del	NP_001182732.1:n.806-266_806-252del
XM_011528010.1:c.1187-266_1187-252del	XP_011526312.1:n.1187-266_1187-252del
XM_011528011.1:c.806-266_806-252del	XP_011526313.1:n.806-266_806-252del
XR_244074.2:n.1337-266_1337-252del
XM_011528010.2:c.1187-266_1187-252del	XP_011526312.1:n.1187-266_1187-252del
XR_001753685.2:n.1304-266_1304-252del
XR_001753686.2:n.1304-266_1304-252del
NM_000527.5:c.1187-266_1187-252del MANE Select	NP_000518.1:n.1187-266_1187-252del
NM_001195798.2:c.1187-266_1187-252del	NP_001182727.1:n.1187-266_1187-252del
NM_001195799.2:c.1064-266_1064-252del	NP_001182728.1:n.1064-266_1064-252del
NM_001195800.2:c.683-266_683-252del	NP_001182729.1:n.683-266_683-252del
NM_001195803.2:c.806-266_806-252del	NP_001182732.1:n.806-266_806-252del