Canonical Allele Identifier: CA2582474639

Gene: LDLR

Linked Data

• gnomAD v4: 19-11113301-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113303del , CM000681.2:g.11113303del	GRCh38
NC_000019.9:g.11223979del , CM000681.1:g.11223979del	GRCh37
NC_000019.8:g.11084979del	NCBI36
NG_009060.1:g.28923del , LRG_274:g.28923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1470del	ENSP00000252444.6:p.Asn491ThrfsTer8
ENST00000559340.2:c.1212del	ENSP00000453696.2:p.Asn405ThrfsTer8
ENST00000560467.2:c.1092del	ENSP00000453513.2:p.Asn365ThrfsTer8
ENST00000558518.6:c.1212del MANE Select	ENSP00000454071.1:p.Asn405ThrfsTer8
ENST00000252444.9:c.1466del
ENST00000455727.6:c.708del	ENSP00000397829.2:p.Asn237ThrfsTer8
ENST00000535915.5:c.1089del	ENSP00000440520.1:p.Asn364ThrfsTer8
ENST00000545707.5:c.831del	ENSP00000437639.1:p.Asn278ThrfsTer8
ENST00000557933.5:c.1212del	ENSP00000453557.1:p.Asn405ThrfsTer8
ENST00000558013.5:c.1212del	ENSP00000453346.1:p.Asn405ThrfsTer8
ENST00000558518.5:c.1212del	ENSP00000454071.1:p.Asn405ThrfsTer8
ENST00000560173.1:n.211del
ENST00000560467.1:c.692del
NM_000527.4:c.1212del , LRG_274t1:c.1212del	NP_000518.1:p.Asn405ThrfsTer8
NM_001195798.1:c.1212del	NP_001182727.1:p.Asn405ThrfsTer8
NM_001195799.1:c.1089del	NP_001182728.1:p.Asn364ThrfsTer8
NM_001195800.1:c.708del	NP_001182729.1:p.Asn237ThrfsTer8
NM_001195803.1:c.831del	NP_001182732.1:p.Asn278ThrfsTer8
XM_011528010.1:c.1212del	XP_011526312.1:p.Asn405ThrfsTer8
XM_011528011.1:c.831del	XP_011526313.1:p.Asn278ThrfsTer8
XR_244074.2:n.1362del
XM_011528010.2:c.1212del	XP_011526312.1:p.Asn405ThrfsTer8
XR_001753685.2:n.1329del
XR_001753686.2:n.1329del
NM_000527.5:c.1212del MANE Select	NP_000518.1:p.Asn405ThrfsTer8
NM_001195798.2:c.1212del	NP_001182727.1:p.Asn405ThrfsTer8
NM_001195799.2:c.1089del	NP_001182728.1:p.Asn364ThrfsTer8
NM_001195800.2:c.708del	NP_001182729.1:p.Asn237ThrfsTer8
NM_001195803.2:c.831del	NP_001182732.1:p.Asn278ThrfsTer8