Canonical Allele Identifier: CA2576625901

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116196del , CM000681.2:g.11116196del	GRCh38
NC_000019.9:g.11226872del , CM000681.1:g.11226872del	GRCh37
NC_000019.8:g.11087872del	NCBI36
NG_009060.1:g.31816del , LRG_274:g.31816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1947del	ENSP00000252444.6:p.Asn650MetfsTer5
ENST00000559340.2:c.1689del	ENSP00000453696.2:p.Asn564MetfsTer5
ENST00000560467.2:c.1569del	ENSP00000453513.2:p.Asn524MetfsTer5
ENST00000558518.6:c.1689del MANE Select	ENSP00000454071.1:p.Asn564MetfsTer5
ENST00000252444.9:c.1943del
ENST00000455727.6:c.1185del	ENSP00000397829.2:p.Asn396MetfsTer5
ENST00000535915.5:c.1566del	ENSP00000440520.1:p.Asn523MetfsTer5
ENST00000545707.5:c.1308del	ENSP00000437639.1:p.Asn437MetfsTer5
ENST00000557933.5:c.1689del	ENSP00000453557.1:p.Asn564MetfsTer5
ENST00000558013.5:c.1689del	ENSP00000453346.1:p.Asn564MetfsTer5
ENST00000558518.5:c.1689del	ENSP00000454071.1:p.Asn564MetfsTer5
ENST00000559340.1:c.410del
NM_000527.4:c.1689del , LRG_274t1:c.1689del	NP_000518.1:p.Asn564MetfsTer5
NM_001195798.1:c.1689del	NP_001182727.1:p.Asn564MetfsTer5
NM_001195799.1:c.1566del	NP_001182728.1:p.Asn523MetfsTer5
NM_001195800.1:c.1185del	NP_001182729.1:p.Asn396MetfsTer5
NM_001195803.1:c.1308del	NP_001182732.1:p.Asn437MetfsTer5
XM_011528010.1:c.1689del	XP_011526312.1:p.Asn564MetfsTer5
XM_011528011.1:c.1308del	XP_011526313.1:p.Asn437MetfsTer5
XR_244074.2:n.1839del
XM_011528010.2:c.1689del	XP_011526312.1:p.Asn564MetfsTer5
XR_001753685.2:n.1806del
XR_001753686.2:n.1806del
NM_000527.5:c.1689del MANE Select	NP_000518.1:p.Asn564MetfsTer5
NM_001195798.2:c.1689del	NP_001182727.1:p.Asn564MetfsTer5
NM_001195799.2:c.1566del	NP_001182728.1:p.Asn523MetfsTer5
NM_001195800.2:c.1185del	NP_001182729.1:p.Asn396MetfsTer5
NM_001195803.2:c.1308del	NP_001182732.1:p.Asn437MetfsTer5