Canonical Allele Identifier: CA1139666263

Gene: LDLR

Linked Data

• ClinVar Variation Id: 977999
• ClinVar RCV Id: RCV001255955
• dbSNP Id: rs2077314244

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107484del , CM000681.2:g.11107484del	GRCh38
NC_000019.9:g.11218160del , CM000681.1:g.11218160del	GRCh37
NC_000019.8:g.11079160del	NCBI36
NG_009060.1:g.23104del , LRG_274:g.23104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1168del	ENSP00000252444.6:p.Asp390ThrfsTer?
ENST00000559340.2:c.910del	ENSP00000453696.2:p.Asp304ThrfsTer?
ENST00000560467.2:c.910del	ENSP00000453513.2:p.Asp304ThrfsTer26
ENST00000558518.6:c.910del MANE Select	ENSP00000454071.1:p.Asp304ThrfsTer?
ENST00000252444.9:c.1164del
ENST00000455727.6:c.406del	ENSP00000397829.2:p.Asp136ThrfsTer?
ENST00000535915.5:c.787del	ENSP00000440520.1:p.Asp263ThrfsTer?
ENST00000545707.5:c.529del	ENSP00000437639.1:p.Asp177ThrfsTer?
ENST00000557933.5:c.910del	ENSP00000453557.1:p.Asp304ThrfsTer?
ENST00000558013.5:c.910del	ENSP00000453346.1:p.Asp304ThrfsTer?
ENST00000558518.5:c.910del	ENSP00000454071.1:p.Asp304ThrfsTer?
ENST00000558528.1:n.425del
ENST00000560467.1:c.510del
NM_000527.4:c.910del , LRG_274t1:c.910del	NP_000518.1:p.Asp304ThrfsTer?
NM_001195798.1:c.910del	NP_001182727.1:p.Asp304ThrfsTer?
NM_001195799.1:c.787del	NP_001182728.1:p.Asp263ThrfsTer?
NM_001195800.1:c.406del	NP_001182729.1:p.Asp136ThrfsTer?
NM_001195803.1:c.529del	NP_001182732.1:p.Asp177ThrfsTer?
XM_011528010.1:c.910del	XP_011526312.1:p.Asp304ThrfsTer?
XM_011528011.1:c.529del	XP_011526313.1:p.Asp177ThrfsTer?
XR_244074.2:n.1060del
XM_011528010.2:c.910del	XP_011526312.1:p.Asp304ThrfsTer?
XR_001753685.2:n.1027del
XR_001753686.2:n.1027del
NM_000527.5:c.910del MANE Select	NP_000518.1:p.Asp304ThrfsTer?
NM_001195798.2:c.910del	NP_001182727.1:p.Asp304ThrfsTer?
NM_001195799.2:c.787del	NP_001182728.1:p.Asp263ThrfsTer?
NM_001195800.2:c.406del	NP_001182729.1:p.Asp136ThrfsTer?
NM_001195803.2:c.529del	NP_001182732.1:p.Asp177ThrfsTer?