Canonical Allele Identifier: CA993516171

Gene: LDLR

Linked Data

• dbSNP Id: rs2077371924
• gnomAD v3: 19-11111333-AATG-A
• gnomAD v4: 19-11111333-AATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111338_11111340del , CM000681.2:g.11111338_11111340del	GRCh38
NC_000019.9:g.11222014_11222016del , CM000681.1:g.11222014_11222016del	GRCh37
NC_000019.8:g.11083014_11083016del	NCBI36
NG_009060.1:g.26958_26960del , LRG_274:g.26958_26960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1319-176_1319-174del	ENSP00000252444.6:n.1319-176_1319-174del
ENST00000559340.2:c.1061-176_1061-174del	ENSP00000453696.2:n.1061-176_1061-174del
ENST00000560467.2:c.941-176_941-174del	ENSP00000453513.2:n.941-176_941-174del
ENST00000558518.6:c.1061-176_1061-174del MANE Select	ENSP00000454071.1:n.1061-176_1061-174del
ENST00000252444.9:c.1315-176_1315-174del
ENST00000455727.6:c.557-176_557-174del	ENSP00000397829.2:n.557-176_557-174del
ENST00000535915.5:c.938-176_938-174del	ENSP00000440520.1:n.938-176_938-174del
ENST00000545707.5:c.680-176_680-174del	ENSP00000437639.1:n.680-176_680-174del
ENST00000557933.5:c.1061-176_1061-174del	ENSP00000453557.1:n.1061-176_1061-174del
ENST00000558013.5:c.1061-176_1061-174del	ENSP00000453346.1:n.1061-176_1061-174del
ENST00000558518.5:c.1061-176_1061-174del	ENSP00000454071.1:n.1061-176_1061-174del
ENST00000560173.1:n.60-176_60-174del
ENST00000560467.1:c.541-176_541-174del
NM_000527.4:c.1061-176_1061-174del , LRG_274t1:c.1061-176_1061-174del	NP_000518.1:n.1061-176_1061-174del
NM_001195798.1:c.1061-176_1061-174del	NP_001182727.1:n.1061-176_1061-174del
NM_001195799.1:c.938-176_938-174del	NP_001182728.1:n.938-176_938-174del
NM_001195800.1:c.557-176_557-174del	NP_001182729.1:n.557-176_557-174del
NM_001195803.1:c.680-176_680-174del	NP_001182732.1:n.680-176_680-174del
XM_011528010.1:c.1061-176_1061-174del	XP_011526312.1:n.1061-176_1061-174del
XM_011528011.1:c.680-176_680-174del	XP_011526313.1:n.680-176_680-174del
XR_244074.2:n.1211-176_1211-174del
XM_011528010.2:c.1061-176_1061-174del	XP_011526312.1:n.1061-176_1061-174del
XR_001753685.2:n.1178-176_1178-174del
XR_001753686.2:n.1178-176_1178-174del
NM_000527.5:c.1061-176_1061-174del MANE Select	NP_000518.1:n.1061-176_1061-174del
NM_001195798.2:c.1061-176_1061-174del	NP_001182727.1:n.1061-176_1061-174del
NM_001195799.2:c.938-176_938-174del	NP_001182728.1:n.938-176_938-174del
NM_001195800.2:c.557-176_557-174del	NP_001182729.1:n.557-176_557-174del
NM_001195803.2:c.680-176_680-174del	NP_001182732.1:n.680-176_680-174del