Canonical Allele Identifier: CA631767769
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v2: 19-11228630-TCG-T
gnomAD v3: 19-11117954-TCG-T
gnomAD v4: 19-11117954-TCG-T
MyVariant Identifiers: chr19:g.11228631_11228632del (hg19) chr19:g.11117955_11117956del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11117955_11117956del , CM000681.2:g.11117955_11117956del GRCh38
NC_000019.9:g.11228631_11228632del , CM000681.1:g.11228631_11228632del GRCh37
NC_000019.8:g.11089631_11089632del NCBI36
NG_009060.1:g.33575_33576del , LRG_274:g.33575_33576del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2103+957_2103+958del ENSP00000252444.6:n.2103+957_2103+958del
ENST00000559340.2:c.1705+1743_1705+1744del ENSP00000453696.2:n.1705+1743_1705+1744del
ENST00000560467.2:c.1725+957_1725+958del ENSP00000453513.2:n.1725+957_1725+958del
ENST00000558518.6:c.1845+957_1845+958del MANE Select ENSP00000454071.1:n.1845+957_1845+958del
ENST00000252444.9:c.2099+957_2099+958del
ENST00000455727.6:c.1341+957_1341+958del ENSP00000397829.2:n.1341+957_1341+958del
ENST00000535915.5:c.1722+957_1722+958del ENSP00000440520.1:n.1722+957_1722+958del
ENST00000545707.5:c.1464+957_1464+958del ENSP00000437639.1:n.1464+957_1464+958del
ENST00000557933.5:c.1845+957_1845+958del ENSP00000453557.1:n.1845+957_1845+958del
ENST00000558013.5:c.1845+957_1845+958del ENSP00000453346.1:n.1845+957_1845+958del
ENST00000558518.5:c.1845+957_1845+958del ENSP00000454071.1:n.1845+957_1845+958del
ENST00000559340.1:c.426+1743_426+1744del
NM_000527.4:c.1845+957_1845+958del , LRG_274t1:c.1845+957_1845+958del NP_000518.1:n.1845+957_1845+958del
NM_001195798.1:c.1845+957_1845+958del NP_001182727.1:n.1845+957_1845+958del
NM_001195799.1:c.1722+957_1722+958del NP_001182728.1:n.1722+957_1722+958del
NM_001195800.1:c.1341+957_1341+958del NP_001182729.1:n.1341+957_1341+958del
NM_001195803.1:c.1464+957_1464+958del NP_001182732.1:n.1464+957_1464+958del
XM_011528010.1:c.1845+957_1845+958del XP_011526312.1:n.1845+957_1845+958del
XM_011528011.1:c.1464+957_1464+958del XP_011526313.1:n.1464+957_1464+958del
XR_244074.2:n.1855+1743_1855+1744del
XM_011528010.2:c.1845+957_1845+958del XP_011526312.1:n.1845+957_1845+958del
XR_001753685.2:n.1962+957_1962+958del
XR_001753686.2:n.1822+1743_1822+1744del
NM_000527.5:c.1845+957_1845+958del MANE Select NP_000518.1:n.1845+957_1845+958del
NM_001195798.2:c.1845+957_1845+958del NP_001182727.1:n.1845+957_1845+958del
NM_001195799.2:c.1722+957_1722+958del NP_001182728.1:n.1722+957_1722+958del
NM_001195800.2:c.1341+957_1341+958del NP_001182729.1:n.1341+957_1341+958del
NM_001195803.2:c.1464+957_1464+958del NP_001182732.1:n.1464+957_1464+958del
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