Canonical Allele Identifier: CA2695228136

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116159_11116169del , CM000681.2:g.11116159_11116169del	GRCh38
NC_000019.9:g.11226835_11226845del , CM000681.1:g.11226835_11226845del	GRCh37
NC_000019.8:g.11087835_11087845del	NCBI36
NG_009060.1:g.31779_31789del , LRG_274:g.31779_31789del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1910_1920del	ENSP00000252444.6:p.Asp637AlafsTer4
ENST00000559340.2:c.1652_1662del	ENSP00000453696.2:p.Asp551AlafsTer4
ENST00000560467.2:c.1532_1542del	ENSP00000453513.2:p.Asp511AlafsTer4
ENST00000558518.6:c.1652_1662del MANE Select	ENSP00000454071.1:p.Asp551AlafsTer4
ENST00000252444.9:c.1906_1916del
ENST00000455727.6:c.1148_1158del	ENSP00000397829.2:p.Asp383AlafsTer4
ENST00000535915.5:c.1529_1539del	ENSP00000440520.1:p.Asp510AlafsTer4
ENST00000545707.5:c.1271_1281del	ENSP00000437639.1:p.Asp424AlafsTer4
ENST00000557933.5:c.1652_1662del	ENSP00000453557.1:p.Asp551AlafsTer4
ENST00000558013.5:c.1652_1662del	ENSP00000453346.1:p.Asp551AlafsTer4
ENST00000558518.5:c.1652_1662del	ENSP00000454071.1:p.Asp551AlafsTer4
ENST00000559340.1:c.373_383del
NM_000527.4:c.1652_1662del , LRG_274t1:c.1652_1662del	NP_000518.1:p.Asp551AlafsTer4
NM_001195798.1:c.1652_1662del	NP_001182727.1:p.Asp551AlafsTer4
NM_001195799.1:c.1529_1539del	NP_001182728.1:p.Asp510AlafsTer4
NM_001195800.1:c.1148_1158del	NP_001182729.1:p.Asp383AlafsTer4
NM_001195803.1:c.1271_1281del	NP_001182732.1:p.Asp424AlafsTer4
XM_011528010.1:c.1652_1662del	XP_011526312.1:p.Asp551AlafsTer4
XM_011528011.1:c.1271_1281del	XP_011526313.1:p.Asp424AlafsTer4
XR_244074.2:n.1802_1812del
XM_011528010.2:c.1652_1662del	XP_011526312.1:p.Asp551AlafsTer4
XR_001753685.2:n.1769_1779del
XR_001753686.2:n.1769_1779del
NM_000527.5:c.1652_1662del MANE Select	NP_000518.1:p.Asp551AlafsTer4
NM_001195798.2:c.1652_1662del	NP_001182727.1:p.Asp551AlafsTer4
NM_001195799.2:c.1529_1539del	NP_001182728.1:p.Asp510AlafsTer4
NM_001195800.2:c.1148_1158del	NP_001182729.1:p.Asp383AlafsTer4
NM_001195803.2:c.1271_1281del	NP_001182732.1:p.Asp424AlafsTer4