Canonical Allele Identifier: CA2322770586

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111321_11111322delinsGT , CM000681.2:g.11111321_11111322delinsGT	GRCh38
NC_000019.9:g.11221997_11221998delinsGT , CM000681.1:g.11221997_11221998delinsGT	GRCh37
NC_000019.8:g.11082997_11082998delinsGT	NCBI36
NG_009060.1:g.26941_26942delinsGT , LRG_274:g.26941_26942delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1319-193_1319-192delinsGT	ENSP00000252444.6:n.1319-193_1319-192delinsGT
ENST00000559340.2:c.1061-193_1061-192delinsGT	ENSP00000453696.2:n.1061-193_1061-192delinsGT
ENST00000560467.2:c.941-193_941-192delinsGT	ENSP00000453513.2:n.941-193_941-192delinsGT
ENST00000558518.6:c.1061-193_1061-192delinsGT MANE Select	ENSP00000454071.1:n.1061-193_1061-192delinsGT
ENST00000252444.9:c.1315-193_1315-192delinsGT
ENST00000455727.6:c.557-193_557-192delinsGT	ENSP00000397829.2:n.557-193_557-192delinsGT
ENST00000535915.5:c.938-193_938-192delinsGT	ENSP00000440520.1:n.938-193_938-192delinsGT
ENST00000545707.5:c.680-193_680-192delinsGT	ENSP00000437639.1:n.680-193_680-192delinsGT
ENST00000557933.5:c.1061-193_1061-192delinsGT	ENSP00000453557.1:n.1061-193_1061-192delinsGT
ENST00000558013.5:c.1061-193_1061-192delinsGT	ENSP00000453346.1:n.1061-193_1061-192delinsGT
ENST00000558518.5:c.1061-193_1061-192delinsGT	ENSP00000454071.1:n.1061-193_1061-192delinsGT
ENST00000560173.1:n.60-193_60-192delinsGT
ENST00000560467.1:c.541-193_541-192delinsGT
NM_000527.4:c.1061-193_1061-192delinsGT , LRG_274t1:c.1061-193_1061-192delinsGT	NP_000518.1:n.1061-193_1061-192delinsGT
NM_001195798.1:c.1061-193_1061-192delinsGT	NP_001182727.1:n.1061-193_1061-192delinsGT
NM_001195799.1:c.938-193_938-192delinsGT	NP_001182728.1:n.938-193_938-192delinsGT
NM_001195800.1:c.557-193_557-192delinsGT	NP_001182729.1:n.557-193_557-192delinsGT
NM_001195803.1:c.680-193_680-192delinsGT	NP_001182732.1:n.680-193_680-192delinsGT
XM_011528010.1:c.1061-193_1061-192delinsGT	XP_011526312.1:n.1061-193_1061-192delinsGT
XM_011528011.1:c.680-193_680-192delinsGT	XP_011526313.1:n.680-193_680-192delinsGT
XR_244074.2:n.1211-193_1211-192delinsGT
XM_011528010.2:c.1061-193_1061-192delinsGT	XP_011526312.1:n.1061-193_1061-192delinsGT
XR_001753685.2:n.1178-193_1178-192delinsGT
XR_001753686.2:n.1178-193_1178-192delinsGT
NM_000527.5:c.1061-193_1061-192delinsGT MANE Select	NP_000518.1:n.1061-193_1061-192delinsGT
NM_001195798.2:c.1061-193_1061-192delinsGT	NP_001182727.1:n.1061-193_1061-192delinsGT
NM_001195799.2:c.938-193_938-192delinsGT	NP_001182728.1:n.938-193_938-192delinsGT
NM_001195800.2:c.557-193_557-192delinsGT	NP_001182729.1:n.557-193_557-192delinsGT
NM_001195803.2:c.680-193_680-192delinsGT	NP_001182732.1:n.680-193_680-192delinsGT