Canonical Allele Identifier: CA2695228329

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129520del , CM000681.2:g.11129520del	GRCh38
NC_000019.9:g.11240196del , CM000681.1:g.11240196del	GRCh37
NC_000019.8:g.11101196del	NCBI36
NG_009060.1:g.45140del , LRG_274:g.45140del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2655del	ENSP00000252444.6:p.Val886SerfsTer?
ENST00000559340.2:c.*466del	ENSP00000453696.2:n.*466del
ENST00000560467.2:c.2277del	ENSP00000453513.2:p.Val760SerfsTer?
ENST00000558518.6:c.2397del MANE Select	ENSP00000454071.1:p.Val800SerfsTer?
ENST00000252444.9:c.2651del
ENST00000455727.6:c.1893del	ENSP00000397829.2:p.Val632SerfsTer?
ENST00000535915.5:c.2274del	ENSP00000440520.1:p.Val759SerfsTer?
ENST00000545707.5:c.1863del	ENSP00000437639.1:p.Val622SerfsTer?
ENST00000557933.5:c.2459del	ENSP00000453557.1:p.Ser820CysfsTer17
ENST00000558013.5:c.2397del	ENSP00000453346.1:p.Val800SerfsTer?
ENST00000558518.5:c.2397del	ENSP00000454071.1:p.Val800SerfsTer?
ENST00000560628.1:n.108+1866del
NM_000527.4:c.2397del , LRG_274t1:c.2397del	NP_000518.1:p.Val800SerfsTer?
NM_001195798.1:c.2397del	NP_001182727.1:p.Val800SerfsTer?
NM_001195799.1:c.2274del	NP_001182728.1:p.Val759SerfsTer?
NM_001195800.1:c.1893del	NP_001182729.1:p.Val632SerfsTer?
NM_001195803.1:c.1863del	NP_001182732.1:p.Val622SerfsTer?
XM_011528010.1:c.2319del	XP_011526312.1:p.Val774SerfsTer?
XM_011528011.1:c.2016del	XP_011526313.1:p.Val673SerfsTer?
XR_244074.2:n.2407del
XM_011528010.2:c.2319del	XP_011526312.1:p.Val774SerfsTer?
XR_001753685.2:n.2731del
XR_001753686.2:n.2374del
NM_000527.5:c.2397del MANE Select	NP_000518.1:p.Val800SerfsTer?
NM_001195798.2:c.2397del	NP_001182727.1:p.Val800SerfsTer?
NM_001195799.2:c.2274del	NP_001182728.1:p.Val759SerfsTer?
NM_001195800.2:c.1893del	NP_001182729.1:p.Val632SerfsTer?
NM_001195803.2:c.1863del	NP_001182732.1:p.Val622SerfsTer?