Canonical Allele Identifier: CA645373248
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431521
ClinVar RCV Id: RCV000497040
dbSNP Id: rs875989917

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111611_11111615dup , CM000681.2:g.11111611_11111615dup GRCh38
NC_000019.9:g.11222287_11222291dup , CM000681.1:g.11222287_11222291dup GRCh37
NC_000019.8:g.11083287_11083291dup NCBI36
NG_009060.1:g.27231_27235dup , LRG_274:g.27231_27235dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1416_1420dup ENSP00000252444.6:p.His474ProfsTer27
ENST00000559340.2:c.1158_1162dup ENSP00000453696.2:p.His388ProfsTer27
ENST00000560467.2:c.1038_1042dup ENSP00000453513.2:p.His348ProfsTer27
ENST00000558518.6:c.1158_1162dup MANE Select ENSP00000454071.1:p.His388ProfsTer27
ENST00000252444.9:c.1412_1416dup
ENST00000455727.6:c.654_658dup ENSP00000397829.2:p.His220ProfsTer27
ENST00000535915.5:c.1035_1039dup ENSP00000440520.1:p.His347ProfsTer27
ENST00000545707.5:c.777_781dup ENSP00000437639.1:p.His261ProfsTer27
ENST00000557933.5:c.1158_1162dup ENSP00000453557.1:p.His388ProfsTer27
ENST00000558013.5:c.1158_1162dup ENSP00000453346.1:p.His388ProfsTer27
ENST00000558518.5:c.1158_1162dup ENSP00000454071.1:p.His388ProfsTer27
ENST00000560173.1:n.157_161dup
ENST00000560467.1:c.638_642dup
NM_000527.4:c.1158_1162dup , LRG_274t1:c.1158_1162dup NP_000518.1:p.His388ProfsTer27
NM_001195798.1:c.1158_1162dup NP_001182727.1:p.His388ProfsTer27
NM_001195799.1:c.1035_1039dup NP_001182728.1:p.His347ProfsTer27
NM_001195800.1:c.654_658dup NP_001182729.1:p.His220ProfsTer27
NM_001195803.1:c.777_781dup NP_001182732.1:p.His261ProfsTer27
XM_011528010.1:c.1158_1162dup XP_011526312.1:p.His388ProfsTer27
XM_011528011.1:c.777_781dup XP_011526313.1:p.His261ProfsTer27
XR_244074.2:n.1308_1312dup
XM_011528010.2:c.1158_1162dup XP_011526312.1:p.His388ProfsTer27
XR_001753685.2:n.1275_1279dup
XR_001753686.2:n.1275_1279dup
NM_000527.5:c.1158_1162dup MANE Select NP_000518.1:p.His388ProfsTer27
NM_001195798.2:c.1158_1162dup NP_001182727.1:p.His388ProfsTer27
NM_001195799.2:c.1035_1039dup NP_001182728.1:p.His347ProfsTer27
NM_001195800.2:c.654_658dup NP_001182729.1:p.His220ProfsTer27
NM_001195803.2:c.777_781dup NP_001182732.1:p.His261ProfsTer27