Canonical Allele Identifier: CA2322774348
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077492397
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11118192_11118193insT , CM000681.2:g.11118192_11118193insT GRCh38
NC_000019.9:g.11228868_11228869insT , CM000681.1:g.11228868_11228869insT GRCh37
NC_000019.8:g.11089868_11089869insT NCBI36
NG_009060.1:g.33812_33813insT , LRG_274:g.33812_33813insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+1194_2103+1195insT ENSP00000252444.6:n.2103+1194_2103+1195insT
ENST00000559340.2:c.1706-1900_1706-1899insT ENSP00000453696.2:n.1706-1900_1706-1899insT
ENST00000560467.2:c.1725+1194_1725+1195insT ENSP00000453513.2:n.1725+1194_1725+1195insT
ENST00000558518.6:c.1845+1194_1845+1195insT MANE Select ENSP00000454071.1:n.1845+1194_1845+1195insT
ENST00000252444.9:c.2099+1194_2099+1195insT
ENST00000455727.6:c.1341+1194_1341+1195insT ENSP00000397829.2:n.1341+1194_1341+1195insT
ENST00000535915.5:c.1722+1194_1722+1195insT ENSP00000440520.1:n.1722+1194_1722+1195insT
ENST00000545707.5:c.1464+1194_1464+1195insT ENSP00000437639.1:n.1464+1194_1464+1195insT
ENST00000557933.5:c.1845+1194_1845+1195insT ENSP00000453557.1:n.1845+1194_1845+1195insT
ENST00000558013.5:c.1845+1194_1845+1195insT ENSP00000453346.1:n.1845+1194_1845+1195insT
ENST00000558518.5:c.1845+1194_1845+1195insT ENSP00000454071.1:n.1845+1194_1845+1195insT
ENST00000559340.1:c.427-1900_427-1899insT
NM_000527.4:c.1845+1194_1845+1195insT , LRG_274t1:c.1845+1194_1845+1195insT NP_000518.1:n.1845+1194_1845+1195insT
NM_001195798.1:c.1845+1194_1845+1195insT NP_001182727.1:n.1845+1194_1845+1195insT
NM_001195799.1:c.1722+1194_1722+1195insT NP_001182728.1:n.1722+1194_1722+1195insT
NM_001195800.1:c.1341+1194_1341+1195insT NP_001182729.1:n.1341+1194_1341+1195insT
NM_001195803.1:c.1464+1194_1464+1195insT NP_001182732.1:n.1464+1194_1464+1195insT
XM_011528010.1:c.1845+1194_1845+1195insT XP_011526312.1:n.1845+1194_1845+1195insT
XM_011528011.1:c.1464+1194_1464+1195insT XP_011526313.1:n.1464+1194_1464+1195insT
XR_244074.2:n.1856-1900_1856-1899insT
XM_011528010.2:c.1845+1194_1845+1195insT XP_011526312.1:n.1845+1194_1845+1195insT
XR_001753685.2:n.1962+1194_1962+1195insT
XR_001753686.2:n.1823-1900_1823-1899insT
NM_000527.5:c.1845+1194_1845+1195insT MANE Select NP_000518.1:n.1845+1194_1845+1195insT
NM_001195798.2:c.1845+1194_1845+1195insT NP_001182727.1:n.1845+1194_1845+1195insT
NM_001195799.2:c.1722+1194_1722+1195insT NP_001182728.1:n.1722+1194_1722+1195insT
NM_001195800.2:c.1341+1194_1341+1195insT NP_001182729.1:n.1341+1194_1341+1195insT
NM_001195803.2:c.1464+1194_1464+1195insT NP_001182732.1:n.1464+1194_1464+1195insT
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