Canonical Allele Identifier: CA2735610855

Gene: LDLR

Linked Data

• dbSNP Id: rs2147223363

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105264_11105267del , CM000681.2:g.11105264_11105267del	GRCh38
NC_000019.9:g.11215940_11215943del , CM000681.1:g.11215940_11215943del	GRCh37
NC_000019.8:g.11076940_11076943del	NCBI36
NG_009060.1:g.20884_20887del , LRG_274:g.20884_20887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.616_619del	ENSP00000252444.6:p.Lys206AlafsTer?
ENST00000559340.2:c.358_361del	ENSP00000453696.2:p.Lys120AlafsTer?
ENST00000560467.2:c.358_361del	ENSP00000453513.2:p.Lys120AlafsTer?
ENST00000558518.6:c.358_361del MANE Select	ENSP00000454071.1:p.Lys120AlafsTer?
ENST00000252444.9:c.612_615del
ENST00000455727.6:c.314-2128_314-2125del	ENSP00000397829.2:n.314-2128_314-2125del
ENST00000535915.5:c.235_238del	ENSP00000440520.1:p.Lys79AlafsTer?
ENST00000545707.5:c.314-1301_314-1298del	ENSP00000437639.1:n.314-1301_314-1298del
ENST00000557933.5:c.358_361del	ENSP00000453557.1:p.Lys120AlafsTer?
ENST00000558013.5:c.358_361del	ENSP00000453346.1:p.Lys120AlafsTer?
ENST00000558518.5:c.358_361del	ENSP00000454071.1:p.Lys120AlafsTer?
NM_000527.4:c.358_361del , LRG_274t1:c.358_361del	NP_000518.1:p.Lys120AlafsTer?
NM_001195798.1:c.358_361del	NP_001182727.1:p.Lys120AlafsTer?
NM_001195799.1:c.235_238del	NP_001182728.1:p.Lys79AlafsTer?
NM_001195800.1:c.314-2128_314-2125del	NP_001182729.1:n.314-2128_314-2125del
NM_001195803.1:c.314-1301_314-1298del	NP_001182732.1:n.314-1301_314-1298del
XM_011528010.1:c.358_361del	XP_011526312.1:p.Lys120AlafsTer?
XM_011528011.1:c.314-1301_314-1298del	XP_011526313.1:n.314-1301_314-1298del
XR_244074.2:n.508_511del
XM_011528010.2:c.358_361del	XP_011526312.1:p.Lys120AlafsTer?
XR_001753685.2:n.475_478del
XR_001753686.2:n.475_478del
NM_000527.5:c.358_361del MANE Select	NP_000518.1:p.Lys120AlafsTer?
NM_001195798.2:c.358_361del	NP_001182727.1:p.Lys120AlafsTer?
NM_001195799.2:c.235_238del	NP_001182728.1:p.Lys79AlafsTer?
NM_001195800.2:c.314-2128_314-2125del	NP_001182729.1:n.314-2128_314-2125del
NM_001195803.2:c.314-1301_314-1298del	NP_001182732.1:n.314-1301_314-1298del