Canonical Allele Identifier: CA10585549

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251958
• ClinVar RCV Id: RCV000237515
• dbSNP Id: rs879254975
• MyVariant Identifiers: chr19:g.11226842_11226844delinsATACTTTCA (hg19) ; chr19:g.11116166_11116168delinsATACTTTCA (hg38)
• PubMed: PMID:17765246

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116166_11116168delinsATACTTTCA , CM000681.2:g.11116166_11116168delinsATACTTTCA	GRCh38
NC_000019.9:g.11226842_11226844delinsATACTTTCA , CM000681.1:g.11226842_11226844delinsATACTTTCA	GRCh37
NC_000019.8:g.11087842_11087844delinsATACTTTCA	NCBI36
NG_009060.1:g.31786_31788delinsATACTTTCA , LRG_274:g.31786_31788delinsATACTTTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1917_1919delinsATACTTTCA	ENSP00000252444.6:p.Tyr639Ter
ENST00000559340.2:c.1659_1661delinsATACTTTCA	ENSP00000453696.2:p.Tyr553Ter
ENST00000560467.2:c.1539_1541delinsATACTTTCA	ENSP00000453513.2:p.Tyr513Ter
ENST00000558518.6:c.1659_1661delinsATACTTTCA MANE Select	ENSP00000454071.1:p.Tyr553Ter
ENST00000252444.9:c.1913_1915delinsATACTTTCA
ENST00000455727.6:c.1155_1157delinsATACTTTCA	ENSP00000397829.2:p.Tyr385Ter
ENST00000535915.5:c.1536_1538delinsATACTTTCA	ENSP00000440520.1:p.Tyr512Ter
ENST00000545707.5:c.1278_1280delinsATACTTTCA	ENSP00000437639.1:p.Tyr426Ter
ENST00000557933.5:c.1659_1661delinsATACTTTCA	ENSP00000453557.1:p.Tyr553Ter
ENST00000558013.5:c.1659_1661delinsATACTTTCA	ENSP00000453346.1:p.Tyr553Ter
ENST00000558518.5:c.1659_1661delinsATACTTTCA	ENSP00000454071.1:p.Tyr553Ter
ENST00000559340.1:c.380_382delinsATACTTTCA
NM_000527.4:c.1659_1661delinsATACTTTCA , LRG_274t1:c.1659_1661delinsATACTTTCA	NP_000518.1:p.Tyr553Ter
NM_001195798.1:c.1659_1661delinsATACTTTCA	NP_001182727.1:p.Tyr553Ter
NM_001195799.1:c.1536_1538delinsATACTTTCA	NP_001182728.1:p.Tyr512Ter
NM_001195800.1:c.1155_1157delinsATACTTTCA	NP_001182729.1:p.Tyr385Ter
NM_001195803.1:c.1278_1280delinsATACTTTCA	NP_001182732.1:p.Tyr426Ter
XM_011528010.1:c.1659_1661delinsATACTTTCA	XP_011526312.1:p.Tyr553Ter
XM_011528011.1:c.1278_1280delinsATACTTTCA	XP_011526313.1:p.Tyr426Ter
XR_244074.2:n.1809_1811delinsATACTTTCA
XM_011528010.2:c.1659_1661delinsATACTTTCA	XP_011526312.1:p.Tyr553Ter
XR_001753685.2:n.1776_1778delinsATACTTTCA
XR_001753686.2:n.1776_1778delinsATACTTTCA
NM_000527.5:c.1659_1661delinsATACTTTCA MANE Select	NP_000518.1:p.Tyr553Ter
NM_001195798.2:c.1659_1661delinsATACTTTCA	NP_001182727.1:p.Tyr553Ter
NM_001195799.2:c.1536_1538delinsATACTTTCA	NP_001182728.1:p.Tyr512Ter
NM_001195800.2:c.1155_1157delinsATACTTTCA	NP_001182729.1:p.Tyr385Ter
NM_001195803.2:c.1278_1280delinsATACTTTCA	NP_001182732.1:p.Tyr426Ter