Canonical Allele Identifier: CA2497030116

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105338_11105339insA , CM000681.2:g.11105338_11105339insA	GRCh38
NC_000019.9:g.11216014_11216015insA , CM000681.1:g.11216014_11216015insA	GRCh37
NC_000019.8:g.11077014_11077015insA	NCBI36
NG_009060.1:g.20958_20959insA , LRG_274:g.20958_20959insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.690_691insA	ENSP00000252444.6:p.Val231SerfsTer?
ENST00000559340.2:c.432_433insA	ENSP00000453696.2:p.Val145SerfsTer?
ENST00000560467.2:c.432_433insA	ENSP00000453513.2:p.Val145SerfsTer?
ENST00000558518.6:c.432_433insA MANE Select	ENSP00000454071.1:p.Val145SerfsTer?
ENST00000252444.9:c.686_687insA
ENST00000455727.6:c.314-2054_314-2053insA	ENSP00000397829.2:n.314-2054_314-2053insA
ENST00000535915.5:c.309_310insA	ENSP00000440520.1:p.Val104SerfsTer?
ENST00000545707.5:c.314-1227_314-1226insA	ENSP00000437639.1:n.314-1227_314-1226insA
ENST00000557933.5:c.432_433insA	ENSP00000453557.1:p.Val145SerfsTer?
ENST00000558013.5:c.432_433insA	ENSP00000453346.1:p.Val145SerfsTer?
ENST00000558518.5:c.432_433insA	ENSP00000454071.1:p.Val145SerfsTer?
ENST00000560467.1:c.32_33insA
NM_000527.4:c.432_433insA , LRG_274t1:c.432_433insA	NP_000518.1:p.Val145SerfsTer?
NM_001195798.1:c.432_433insA	NP_001182727.1:p.Val145SerfsTer?
NM_001195799.1:c.309_310insA	NP_001182728.1:p.Val104SerfsTer?
NM_001195800.1:c.314-2054_314-2053insA	NP_001182729.1:n.314-2054_314-2053insA
NM_001195803.1:c.314-1227_314-1226insA	NP_001182732.1:n.314-1227_314-1226insA
XM_011528010.1:c.432_433insA	XP_011526312.1:p.Val145SerfsTer?
XM_011528011.1:c.314-1227_314-1226insA	XP_011526313.1:n.314-1227_314-1226insA
XR_244074.2:n.582_583insA
XM_011528010.2:c.432_433insA	XP_011526312.1:p.Val145SerfsTer?
XR_001753685.2:n.549_550insA
XR_001753686.2:n.549_550insA
NM_000527.5:c.432_433insA MANE Select	NP_000518.1:p.Val145SerfsTer?
NM_001195798.2:c.432_433insA	NP_001182727.1:p.Val145SerfsTer?
NM_001195799.2:c.309_310insA	NP_001182728.1:p.Val104SerfsTer?
NM_001195800.2:c.314-2054_314-2053insA	NP_001182729.1:n.314-2054_314-2053insA
NM_001195803.2:c.314-1227_314-1226insA	NP_001182732.1:n.314-1227_314-1226insA