Canonical Allele Identifier: CA10585390

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251771
• ClinVar RCV Id: RCV000238373
• dbSNP Id: rs879254856
• MyVariant Identifiers: chr19:g.11224063_11224065del (hg19) ; chr19:g.11113387_11113389del (hg38)
• PubMed: PMID:23375686

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113387_11113389del , CM000681.2:g.11113387_11113389del	GRCh38
NC_000019.9:g.11224063_11224065del , CM000681.1:g.11224063_11224065del	GRCh37
NC_000019.8:g.11085063_11085065del	NCBI36
NG_009060.1:g.29007_29009del , LRG_274:g.29007_29009del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1554_1556del	ENSP00000252444.6:p.Asp519del
ENST00000559340.2:c.1296_1298del	ENSP00000453696.2:p.Asp433del
ENST00000560467.2:c.1176_1178del	ENSP00000453513.2:p.Asp393del
ENST00000558518.6:c.1296_1298del MANE Select	ENSP00000454071.1:p.Asp433del
ENST00000252444.9:c.1550_1552del
ENST00000455727.6:c.792_794del	ENSP00000397829.2:p.Asp265del
ENST00000535915.5:c.1173_1175del	ENSP00000440520.1:p.Asp392del
ENST00000545707.5:c.915_917del	ENSP00000437639.1:p.Asp306del
ENST00000557933.5:c.1296_1298del	ENSP00000453557.1:p.Asp433del
ENST00000558013.5:c.1296_1298del	ENSP00000453346.1:p.Asp433del
ENST00000558518.5:c.1296_1298del	ENSP00000454071.1:p.Asp433del
ENST00000559340.1:c.17_19del
ENST00000560173.1:n.295_297del
ENST00000560467.1:c.776_778del
NM_000527.4:c.1296_1298del , LRG_274t1:c.1296_1298del	NP_000518.1:p.Asp433del
NM_001195798.1:c.1296_1298del	NP_001182727.1:p.Asp433del
NM_001195799.1:c.1173_1175del	NP_001182728.1:p.Asp392del
NM_001195800.1:c.792_794del	NP_001182729.1:p.Asp265del
NM_001195803.1:c.915_917del	NP_001182732.1:p.Asp306del
XM_011528010.1:c.1296_1298del	XP_011526312.1:p.Asp433del
XM_011528011.1:c.915_917del	XP_011526313.1:p.Asp306del
XR_244074.2:n.1446_1448del
XM_011528010.2:c.1296_1298del	XP_011526312.1:p.Asp433del
XR_001753685.2:n.1413_1415del
XR_001753686.2:n.1413_1415del
NM_000527.5:c.1296_1298del MANE Select	NP_000518.1:p.Asp433del
NM_001195798.2:c.1296_1298del	NP_001182727.1:p.Asp433del
NM_001195799.2:c.1173_1175del	NP_001182728.1:p.Asp392del
NM_001195800.2:c.792_794del	NP_001182729.1:p.Asp265del
NM_001195803.2:c.915_917del	NP_001182732.1:p.Asp306del