Canonical Allele Identifier: CA2497030125

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105572del , CM000681.2:g.11105572del	GRCh38
NC_000019.9:g.11216248del , CM000681.1:g.11216248del	GRCh37
NC_000019.8:g.11077248del	NCBI36
NG_009060.1:g.21192del , LRG_274:g.21192del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.924del	ENSP00000252444.6:p.Cys308Ter
ENST00000559340.2:c.666del	ENSP00000453696.2:p.Cys222Ter
ENST00000560467.2:c.666del	ENSP00000453513.2:p.Cys222Ter
ENST00000558518.6:c.666del MANE Select	ENSP00000454071.1:p.Cys222Ter
ENST00000252444.9:c.920del
ENST00000455727.6:c.314-1820del	ENSP00000397829.2:n.314-1820del
ENST00000535915.5:c.543del	ENSP00000440520.1:p.Cys181Ter
ENST00000545707.5:c.314-993del	ENSP00000437639.1:n.314-993del
ENST00000557933.5:c.666del	ENSP00000453557.1:p.Cys222Ter
ENST00000558013.5:c.666del	ENSP00000453346.1:p.Cys222Ter
ENST00000558518.5:c.666del	ENSP00000454071.1:p.Cys222Ter
ENST00000560467.1:c.266del
NM_000527.4:c.666del , LRG_274t1:c.666del	NP_000518.1:p.Cys222Ter
NM_001195798.1:c.666del	NP_001182727.1:p.Cys222Ter
NM_001195799.1:c.543del	NP_001182728.1:p.Cys181Ter
NM_001195800.1:c.314-1820del	NP_001182729.1:n.314-1820del
NM_001195803.1:c.314-993del	NP_001182732.1:n.314-993del
XM_011528010.1:c.666del	XP_011526312.1:p.Cys222Ter
XM_011528011.1:c.314-993del	XP_011526313.1:n.314-993del
XR_244074.2:n.816del
XM_011528010.2:c.666del	XP_011526312.1:p.Cys222Ter
XR_001753685.2:n.783del
XR_001753686.2:n.783del
NM_000527.5:c.666del MANE Select	NP_000518.1:p.Cys222Ter
NM_001195798.2:c.666del	NP_001182727.1:p.Cys222Ter
NM_001195799.2:c.543del	NP_001182728.1:p.Cys181Ter
NM_001195800.2:c.314-1820del	NP_001182729.1:n.314-1820del
NM_001195803.2:c.314-993del	NP_001182732.1:n.314-993del