Canonical Allele Identifier: CA10585443

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251831
• ClinVar RCV Id: RCV000237338
• dbSNP Id: rs879254893
• MyVariant Identifiers: chr19:g.11224269_11224283del (hg19) ; chr19:g.11113593_11113607del (hg38)
• PubMed: PMID:19446849

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113593_11113607del , CM000681.2:g.11113593_11113607del	GRCh38
NC_000019.9:g.11224269_11224283del , CM000681.1:g.11224269_11224283del	GRCh37
NC_000019.8:g.11085269_11085283del	NCBI36
NG_009060.1:g.29213_29227del , LRG_274:g.29213_29227del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1675_1689del	ENSP00000252444.6:p.Ile559_Asp563del
ENST00000559340.2:c.1417_1431del	ENSP00000453696.2:p.Ile473_Asp477del
ENST00000560467.2:c.1297_1311del	ENSP00000453513.2:p.Ile433_Asp437del
ENST00000558518.6:c.1417_1431del MANE Select	ENSP00000454071.1:p.Ile473_Asp477del
ENST00000252444.9:c.1671_1685del
ENST00000455727.6:c.913_927del	ENSP00000397829.2:p.Ile305_Asp309del
ENST00000535915.5:c.1294_1308del	ENSP00000440520.1:p.Ile432_Asp436del
ENST00000545707.5:c.1036_1050del	ENSP00000437639.1:p.Ile346_Asp350del
ENST00000557933.5:c.1417_1431del	ENSP00000453557.1:p.Ile473_Asp477del
ENST00000558013.5:c.1417_1431del	ENSP00000453346.1:p.Ile473_Asp477del
ENST00000558518.5:c.1417_1431del	ENSP00000454071.1:p.Ile473_Asp477del
ENST00000559340.1:c.138_152del
ENST00000560467.1:c.897_911del
NM_000527.4:c.1417_1431del , LRG_274t1:c.1417_1431del	NP_000518.1:p.Ile473_Asp477del
NM_001195798.1:c.1417_1431del	NP_001182727.1:p.Ile473_Asp477del
NM_001195799.1:c.1294_1308del	NP_001182728.1:p.Ile432_Asp436del
NM_001195800.1:c.913_927del	NP_001182729.1:p.Ile305_Asp309del
NM_001195803.1:c.1036_1050del	NP_001182732.1:p.Ile346_Asp350del
XM_011528010.1:c.1417_1431del	XP_011526312.1:p.Ile473_Asp477del
XM_011528011.1:c.1036_1050del	XP_011526313.1:p.Ile346_Asp350del
XR_244074.2:n.1567_1581del
XM_011528010.2:c.1417_1431del	XP_011526312.1:p.Ile473_Asp477del
XR_001753685.2:n.1534_1548del
XR_001753686.2:n.1534_1548del
NM_000527.5:c.1417_1431del MANE Select	NP_000518.1:p.Ile473_Asp477del
NM_001195798.2:c.1417_1431del	NP_001182727.1:p.Ile473_Asp477del
NM_001195799.2:c.1294_1308del	NP_001182728.1:p.Ile432_Asp436del
NM_001195800.2:c.913_927del	NP_001182729.1:p.Ile305_Asp309del
NM_001195803.2:c.1036_1050del	NP_001182732.1:p.Ile346_Asp350del