Canonical Allele Identifier: CA2576626088

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111445_11111446del , CM000681.2:g.11111445_11111446del	GRCh38
NC_000019.9:g.11222121_11222122del , CM000681.1:g.11222121_11222122del	GRCh37
NC_000019.8:g.11083121_11083122del	NCBI36
NG_009060.1:g.27065_27066del , LRG_274:g.27065_27066del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1319-69_1319-68del	ENSP00000252444.6:n.1319-69_1319-68del
ENST00000559340.2:c.1061-69_1061-68del	ENSP00000453696.2:n.1061-69_1061-68del
ENST00000560467.2:c.941-69_941-68del	ENSP00000453513.2:n.941-69_941-68del
ENST00000558518.6:c.1061-69_1061-68del MANE Select	ENSP00000454071.1:n.1061-69_1061-68del
ENST00000252444.9:c.1315-69_1315-68del
ENST00000455727.6:c.557-69_557-68del	ENSP00000397829.2:n.557-69_557-68del
ENST00000535915.5:c.938-69_938-68del	ENSP00000440520.1:n.938-69_938-68del
ENST00000545707.5:c.680-69_680-68del	ENSP00000437639.1:n.680-69_680-68del
ENST00000557933.5:c.1061-69_1061-68del	ENSP00000453557.1:n.1061-69_1061-68del
ENST00000558013.5:c.1061-69_1061-68del	ENSP00000453346.1:n.1061-69_1061-68del
ENST00000558518.5:c.1061-69_1061-68del	ENSP00000454071.1:n.1061-69_1061-68del
ENST00000560173.1:n.60-69_60-68del
ENST00000560467.1:c.541-69_541-68del
NM_000527.4:c.1061-69_1061-68del , LRG_274t1:c.1061-69_1061-68del	NP_000518.1:n.1061-69_1061-68del
NM_001195798.1:c.1061-69_1061-68del	NP_001182727.1:n.1061-69_1061-68del
NM_001195799.1:c.938-69_938-68del	NP_001182728.1:n.938-69_938-68del
NM_001195800.1:c.557-69_557-68del	NP_001182729.1:n.557-69_557-68del
NM_001195803.1:c.680-69_680-68del	NP_001182732.1:n.680-69_680-68del
XM_011528010.1:c.1061-69_1061-68del	XP_011526312.1:n.1061-69_1061-68del
XM_011528011.1:c.680-69_680-68del	XP_011526313.1:n.680-69_680-68del
XR_244074.2:n.1211-69_1211-68del
XM_011528010.2:c.1061-69_1061-68del	XP_011526312.1:n.1061-69_1061-68del
XR_001753685.2:n.1178-69_1178-68del
XR_001753686.2:n.1178-69_1178-68del
NM_000527.5:c.1061-69_1061-68del MANE Select	NP_000518.1:n.1061-69_1061-68del
NM_001195798.2:c.1061-69_1061-68del	NP_001182727.1:n.1061-69_1061-68del
NM_001195799.2:c.938-69_938-68del	NP_001182728.1:n.938-69_938-68del
NM_001195800.2:c.557-69_557-68del	NP_001182729.1:n.557-69_557-68del
NM_001195803.2:c.680-69_680-68del	NP_001182732.1:n.680-69_680-68del