Canonical Allele Identifier: CA2839542168

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120517del , CM000681.2:g.11120517del	GRCh38
NC_000019.9:g.11231193del , CM000681.1:g.11231193del	GRCh37
NC_000019.8:g.11092193del	NCBI36
NG_009060.1:g.36137del , LRG_274:g.36137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2393del	ENSP00000252444.6:p.Leu798ProfsTer18
ENST00000559340.2:c.*204del	ENSP00000453696.2:n.*204del
ENST00000560467.2:c.2015del	ENSP00000453513.2:p.Leu672ProfsTer18
ENST00000558518.6:c.2135del MANE Select	ENSP00000454071.1:p.Leu712ProfsTer18
ENST00000252444.9:c.2389del
ENST00000455727.6:c.1631del	ENSP00000397829.2:p.Leu544ProfsTer18
ENST00000535915.5:c.2012del	ENSP00000440520.1:p.Leu671ProfsTer18
ENST00000545707.5:c.1606+284del	ENSP00000437639.1:n.1606+284del
ENST00000557933.5:c.2135del	ENSP00000453557.1:p.Leu712ProfsTer18
ENST00000558013.5:c.2135del	ENSP00000453346.1:p.Leu712ProfsTer18
ENST00000558518.5:c.2135del	ENSP00000454071.1:p.Leu712ProfsTer18
NM_000527.4:c.2135del , LRG_274t1:c.2135del	NP_000518.1:p.Leu712ProfsTer18
NM_001195798.1:c.2135del	NP_001182727.1:p.Leu712ProfsTer18
NM_001195799.1:c.2012del	NP_001182728.1:p.Leu671ProfsTer18
NM_001195800.1:c.1631del	NP_001182729.1:p.Leu544ProfsTer18
NM_001195803.1:c.1606+284del	NP_001182732.1:n.1606+284del
XM_011528010.1:c.2135del	XP_011526312.1:p.Leu712ProfsTer18
XM_011528011.1:c.1754del	XP_011526313.1:p.Leu585ProfsTer18
XR_244074.2:n.2145del
XM_011528010.2:c.2135del	XP_011526312.1:p.Leu712ProfsTer18
XR_001753685.2:n.2252del
XR_001753686.2:n.2112del
NM_000527.5:c.2135del MANE Select	NP_000518.1:p.Leu712ProfsTer18
NM_001195798.2:c.2135del	NP_001182727.1:p.Leu712ProfsTer18
NM_001195799.2:c.2012del	NP_001182728.1:p.Leu671ProfsTer18
NM_001195800.2:c.1631del	NP_001182729.1:p.Leu544ProfsTer18
NM_001195803.2:c.1606+284del	NP_001182732.1:n.1606+284del