Canonical Allele Identifier: CA2695223193

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105278del , CM000681.2:g.11105278del	GRCh38
NC_000019.9:g.11215954del , CM000681.1:g.11215954del	GRCh37
NC_000019.8:g.11076954del	NCBI36
NG_009060.1:g.20898del , LRG_274:g.20898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.630del	ENSP00000252444.6:p.Gln211SerfsTer?
ENST00000559340.2:c.372del	ENSP00000453696.2:p.Gln125SerfsTer?
ENST00000560467.2:c.372del	ENSP00000453513.2:p.Gln125SerfsTer?
ENST00000558518.6:c.372del MANE Select	ENSP00000454071.1:p.Gln125SerfsTer?
ENST00000252444.9:c.626del
ENST00000455727.6:c.314-2114del	ENSP00000397829.2:n.314-2114del
ENST00000535915.5:c.249del	ENSP00000440520.1:p.Gln84SerfsTer?
ENST00000545707.5:c.314-1287del	ENSP00000437639.1:n.314-1287del
ENST00000557933.5:c.372del	ENSP00000453557.1:p.Gln125SerfsTer?
ENST00000558013.5:c.372del	ENSP00000453346.1:p.Gln125SerfsTer?
ENST00000558518.5:c.372del	ENSP00000454071.1:p.Gln125SerfsTer?
NM_000527.4:c.372del , LRG_274t1:c.372del	NP_000518.1:p.Gln125SerfsTer?
NM_001195798.1:c.372del	NP_001182727.1:p.Gln125SerfsTer?
NM_001195799.1:c.249del	NP_001182728.1:p.Gln84SerfsTer?
NM_001195800.1:c.314-2114del	NP_001182729.1:n.314-2114del
NM_001195803.1:c.314-1287del	NP_001182732.1:n.314-1287del
XM_011528010.1:c.372del	XP_011526312.1:p.Gln125SerfsTer?
XM_011528011.1:c.314-1287del	XP_011526313.1:n.314-1287del
XR_244074.2:n.522del
XM_011528010.2:c.372del	XP_011526312.1:p.Gln125SerfsTer?
XR_001753685.2:n.489del
XR_001753686.2:n.489del
NM_000527.5:c.372del MANE Select	NP_000518.1:p.Gln125SerfsTer?
NM_001195798.2:c.372del	NP_001182727.1:p.Gln125SerfsTer?
NM_001195799.2:c.249del	NP_001182728.1:p.Gln84SerfsTer?
NM_001195800.2:c.314-2114del	NP_001182729.1:n.314-2114del
NM_001195803.2:c.314-1287del	NP_001182732.1:n.314-1287del