Canonical Allele Identifier: CA993516696

Gene: LDLR

Linked Data

• dbSNP Id: rs2077401758
• gnomAD v3: 19-11113010-G-GTT
• gnomAD v4: 19-11113010-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113011_11113012insTT , CM000681.2:g.11113011_11113012insTT	GRCh38
NC_000019.9:g.11223687_11223688insTT , CM000681.1:g.11223687_11223688insTT	GRCh37
NC_000019.8:g.11084687_11084688insTT	NCBI36
NG_009060.1:g.28631_28632insTT , LRG_274:g.28631_28632insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1445-267_1445-266insTT	ENSP00000252444.6:n.1445-267_1445-266insTT
ENST00000559340.2:c.1187-267_1187-266insTT	ENSP00000453696.2:n.1187-267_1187-266insTT
ENST00000560467.2:c.1067-267_1067-266insTT	ENSP00000453513.2:n.1067-267_1067-266insTT
ENST00000558518.6:c.1187-267_1187-266insTT MANE Select	ENSP00000454071.1:n.1187-267_1187-266insTT
ENST00000252444.9:c.1441-267_1441-266insTT
ENST00000455727.6:c.683-267_683-266insTT	ENSP00000397829.2:n.683-267_683-266insTT
ENST00000535915.5:c.1064-267_1064-266insTT	ENSP00000440520.1:n.1064-267_1064-266insTT
ENST00000545707.5:c.806-267_806-266insTT	ENSP00000437639.1:n.806-267_806-266insTT
ENST00000557933.5:c.1187-267_1187-266insTT	ENSP00000453557.1:n.1187-267_1187-266insTT
ENST00000558013.5:c.1187-267_1187-266insTT	ENSP00000453346.1:n.1187-267_1187-266insTT
ENST00000558518.5:c.1187-267_1187-266insTT	ENSP00000454071.1:n.1187-267_1187-266insTT
ENST00000560173.1:n.186-267_186-266insTT
ENST00000560467.1:c.667-267_667-266insTT
NM_000527.4:c.1187-267_1187-266insTT , LRG_274t1:c.1187-267_1187-266insTT	NP_000518.1:n.1187-267_1187-266insTT
NM_001195798.1:c.1187-267_1187-266insTT	NP_001182727.1:n.1187-267_1187-266insTT
NM_001195799.1:c.1064-267_1064-266insTT	NP_001182728.1:n.1064-267_1064-266insTT
NM_001195800.1:c.683-267_683-266insTT	NP_001182729.1:n.683-267_683-266insTT
NM_001195803.1:c.806-267_806-266insTT	NP_001182732.1:n.806-267_806-266insTT
XM_011528010.1:c.1187-267_1187-266insTT	XP_011526312.1:n.1187-267_1187-266insTT
XM_011528011.1:c.806-267_806-266insTT	XP_011526313.1:n.806-267_806-266insTT
XR_244074.2:n.1337-267_1337-266insTT
XM_011528010.2:c.1187-267_1187-266insTT	XP_011526312.1:n.1187-267_1187-266insTT
XR_001753685.2:n.1304-267_1304-266insTT
XR_001753686.2:n.1304-267_1304-266insTT
NM_000527.5:c.1187-267_1187-266insTT MANE Select	NP_000518.1:n.1187-267_1187-266insTT
NM_001195798.2:c.1187-267_1187-266insTT	NP_001182727.1:n.1187-267_1187-266insTT
NM_001195799.2:c.1064-267_1064-266insTT	NP_001182728.1:n.1064-267_1064-266insTT
NM_001195800.2:c.683-267_683-266insTT	NP_001182729.1:n.683-267_683-266insTT
NM_001195803.2:c.806-267_806-266insTT	NP_001182732.1:n.806-267_806-266insTT