Canonical Allele Identifier: CA645373249
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431522
ClinVar RCV Id: RCV000497103
dbSNP Id: rs875989917

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111615dup , CM000681.2:g.11111615dup GRCh38
NC_000019.9:g.11222291dup , CM000681.1:g.11222291dup GRCh37
NC_000019.8:g.11083291dup NCBI36
NG_009060.1:g.27235dup , LRG_274:g.27235dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1420dup ENSP00000252444.6:p.His474ProfsTer?
ENST00000559340.2:c.1162dup ENSP00000453696.2:p.His388ProfsTer?
ENST00000560467.2:c.1042dup ENSP00000453513.2:p.His348ProfsTer?
ENST00000558518.6:c.1162dup MANE Select ENSP00000454071.1:p.His388ProfsTer?
ENST00000252444.9:c.1416dup
ENST00000455727.6:c.658dup ENSP00000397829.2:p.His220ProfsTer?
ENST00000535915.5:c.1039dup ENSP00000440520.1:p.His347ProfsTer?
ENST00000545707.5:c.781dup ENSP00000437639.1:p.His261ProfsTer?
ENST00000557933.5:c.1162dup ENSP00000453557.1:p.His388ProfsTer?
ENST00000558013.5:c.1162dup ENSP00000453346.1:p.His388ProfsTer?
ENST00000558518.5:c.1162dup ENSP00000454071.1:p.His388ProfsTer?
ENST00000560173.1:n.161dup
ENST00000560467.1:c.642dup
NM_000527.4:c.1162dup , LRG_274t1:c.1162dup NP_000518.1:p.His388ProfsTer?
NM_001195798.1:c.1162dup NP_001182727.1:p.His388ProfsTer?
NM_001195799.1:c.1039dup NP_001182728.1:p.His347ProfsTer?
NM_001195800.1:c.658dup NP_001182729.1:p.His220ProfsTer?
NM_001195803.1:c.781dup NP_001182732.1:p.His261ProfsTer?
XM_011528010.1:c.1162dup XP_011526312.1:p.His388ProfsTer?
XM_011528011.1:c.781dup XP_011526313.1:p.His261ProfsTer?
XR_244074.2:n.1312dup
XM_011528010.2:c.1162dup XP_011526312.1:p.His388ProfsTer?
XR_001753685.2:n.1279dup
XR_001753686.2:n.1279dup
NM_000527.5:c.1162dup MANE Select NP_000518.1:p.His388ProfsTer?
NM_001195798.2:c.1162dup NP_001182727.1:p.His388ProfsTer?
NM_001195799.2:c.1039dup NP_001182728.1:p.His347ProfsTer?
NM_001195800.2:c.658dup NP_001182729.1:p.His220ProfsTer?
NM_001195803.2:c.781dup NP_001182732.1:p.His261ProfsTer?