Canonical Allele Identifier: CA305295731
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs891371861
gnomAD v3: 19-11101934-A-AT
gnomAD v4: 19-11101934-A-AT
MyVariant Identifiers: chr19:g.11212610_11212611insT (hg19) chr19:g.11101934_11101935insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11101934_11101935insT , CM000681.2:g.11101934_11101935insT GRCh38
NC_000019.9:g.11212610_11212611insT , CM000681.1:g.11212610_11212611insT GRCh37
NC_000019.8:g.11073610_11073611insT NCBI36
NG_009060.1:g.17554_17555insT , LRG_274:g.17554_17555insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.449-730_449-729insT ENSP00000252444.6:n.449-730_449-729insT
ENST00000559340.2:c.191-730_191-729insT ENSP00000453696.2:n.191-730_191-729insT
ENST00000560467.2:c.191-730_191-729insT ENSP00000453513.2:n.191-730_191-729insT
ENST00000558518.6:c.191-730_191-729insT MANE Select ENSP00000454071.1:n.191-730_191-729insT
ENST00000252444.9:c.445-730_445-729insT
ENST00000455727.6:c.191-730_191-729insT ENSP00000397829.2:n.191-730_191-729insT
ENST00000535915.5:c.190+1589_190+1590insT ENSP00000440520.1:n.190+1589_190+1590insT
ENST00000545707.5:c.191-730_191-729insT ENSP00000437639.1:n.191-730_191-729insT
ENST00000557933.5:c.191-730_191-729insT ENSP00000453557.1:n.191-730_191-729insT
ENST00000557958.1:n.277-730_277-729insT
ENST00000558013.5:c.191-730_191-729insT ENSP00000453346.1:n.191-730_191-729insT
ENST00000558518.5:c.191-730_191-729insT ENSP00000454071.1:n.191-730_191-729insT
NM_000527.4:c.191-730_191-729insT , LRG_274t1:c.191-730_191-729insT NP_000518.1:n.191-730_191-729insT
NM_001195798.1:c.191-730_191-729insT NP_001182727.1:n.191-730_191-729insT
NM_001195799.1:c.190+1589_190+1590insT NP_001182728.1:n.190+1589_190+1590insT
NM_001195800.1:c.191-730_191-729insT NP_001182729.1:n.191-730_191-729insT
NM_001195803.1:c.191-730_191-729insT NP_001182732.1:n.191-730_191-729insT
XM_011528010.1:c.191-730_191-729insT XP_011526312.1:n.191-730_191-729insT
XM_011528011.1:c.191-730_191-729insT XP_011526313.1:n.191-730_191-729insT
XR_244074.2:n.341-730_341-729insT
XM_011528010.2:c.191-730_191-729insT XP_011526312.1:n.191-730_191-729insT
XR_001753685.2:n.308-730_308-729insT
XR_001753686.2:n.308-730_308-729insT
NM_000527.5:c.191-730_191-729insT MANE Select NP_000518.1:n.191-730_191-729insT
NM_001195798.2:c.191-730_191-729insT NP_001182727.1:n.191-730_191-729insT
NM_001195799.2:c.190+1589_190+1590insT NP_001182728.1:n.190+1589_190+1590insT
NM_001195800.2:c.191-730_191-729insT NP_001182729.1:n.191-730_191-729insT
NM_001195803.2:c.191-730_191-729insT NP_001182732.1:n.191-730_191-729insT
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