Canonical Allele Identifier: CA1139768693

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123247del , CM000681.2:g.11123247del	GRCh38
NC_000019.9:g.11233923del , CM000681.1:g.11233923del	GRCh37
NC_000019.8:g.11094923del	NCBI36
NG_009060.1:g.38867del , LRG_274:g.38867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2472del	ENSP00000252444.6:p.Gln825SerfsTer26
ENST00000559340.2:c.*283del	ENSP00000453696.2:n.*283del
ENST00000560467.2:c.2094del	ENSP00000453513.2:p.Gln699SerfsTer26
ENST00000558518.6:c.2214del MANE Select	ENSP00000454071.1:p.Gln739SerfsTer26
ENST00000252444.9:c.2468del
ENST00000455727.6:c.1710del	ENSP00000397829.2:p.Gln571SerfsTer26
ENST00000535915.5:c.2091del	ENSP00000440520.1:p.Gln698SerfsTer26
ENST00000545707.5:c.1680del	ENSP00000437639.1:p.Gln561SerfsTer26
ENST00000557933.5:c.2214del	ENSP00000453557.1:p.Gln739SerfsTer26
ENST00000558013.5:c.2214del	ENSP00000453346.1:p.Gln739SerfsTer26
ENST00000558518.5:c.2214del	ENSP00000454071.1:p.Gln739SerfsTer26
NM_000527.4:c.2214del , LRG_274t1:c.2214del	NP_000518.1:p.Gln739SerfsTer26
NM_001195798.1:c.2214del	NP_001182727.1:p.Gln739SerfsTer26
NM_001195799.1:c.2091del	NP_001182728.1:p.Gln698SerfsTer26
NM_001195800.1:c.1710del	NP_001182729.1:p.Gln571SerfsTer26
NM_001195803.1:c.1680del	NP_001182732.1:p.Gln561SerfsTer26
XM_011528010.1:c.2214del	XP_011526312.1:p.Gln739SerfsTer26
XM_011528011.1:c.1833del	XP_011526313.1:p.Gln612SerfsTer26
XR_244074.2:n.2224del
XM_011528010.2:c.2214del	XP_011526312.1:p.Gln739SerfsTer26
XR_001753685.2:n.2548del
XR_001753686.2:n.2191del
NM_000527.5:c.2214del MANE Select	NP_000518.1:p.Gln739SerfsTer26
NM_001195798.2:c.2214del	NP_001182727.1:p.Gln739SerfsTer26
NM_001195799.2:c.2091del	NP_001182728.1:p.Gln698SerfsTer26
NM_001195800.2:c.1710del	NP_001182729.1:p.Gln571SerfsTer26
NM_001195803.2:c.1680del	NP_001182732.1:p.Gln561SerfsTer26