Canonical Allele Identifier: CA2582473987
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11107455-A-ACATGTCTAGTCTCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107455_11107456insCATGTCTAGTCTCT , CM000681.2:g.11107455_11107456insCATGTCTAGTCTCT GRCh38
NC_000019.9:g.11218131_11218132insCATGTCTAGTCTCT , CM000681.1:g.11218131_11218132insCATGTCTAGTCTCT GRCh37
NC_000019.8:g.11079131_11079132insCATGTCTAGTCTCT NCBI36
NG_009060.1:g.23075_23076insCATGTCTAGTCTCT , LRG_274:g.23075_23076insCATGTCTAGTCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1139_1140insCATGTCTAGTCTCT ENSP00000252444.6:p.Lys380AsnfsTer6
ENST00000559340.2:c.881_882insCATGTCTAGTCTCT ENSP00000453696.2:p.Lys294AsnfsTer6
ENST00000560467.2:c.881_882insCATGTCTAGTCTCT ENSP00000453513.2:p.Lys294AsnfsTer6
ENST00000558518.6:c.881_882insCATGTCTAGTCTCT MANE Select ENSP00000454071.1:p.Lys294AsnfsTer6
ENST00000252444.9:c.1135_1136insCATGTCTAGTCTCT
ENST00000455727.6:c.377_378insCATGTCTAGTCTCT ENSP00000397829.2:p.Lys126AsnfsTer6
ENST00000535915.5:c.758_759insCATGTCTAGTCTCT ENSP00000440520.1:p.Lys253AsnfsTer6
ENST00000545707.5:c.500_501insCATGTCTAGTCTCT ENSP00000437639.1:p.Lys167AsnfsTer6
ENST00000557933.5:c.881_882insCATGTCTAGTCTCT ENSP00000453557.1:p.Lys294AsnfsTer6
ENST00000558013.5:c.881_882insCATGTCTAGTCTCT ENSP00000453346.1:p.Lys294AsnfsTer6
ENST00000558518.5:c.881_882insCATGTCTAGTCTCT ENSP00000454071.1:p.Lys294AsnfsTer6
ENST00000558528.1:n.396_397insCATGTCTAGTCTCT
ENST00000560467.1:c.481_482insCATGTCTAGTCTCT
NM_000527.4:c.881_882insCATGTCTAGTCTCT , LRG_274t1:c.881_882insCATGTCTAGTCTCT NP_000518.1:p.Lys294AsnfsTer6
NM_001195798.1:c.881_882insCATGTCTAGTCTCT NP_001182727.1:p.Lys294AsnfsTer6
NM_001195799.1:c.758_759insCATGTCTAGTCTCT NP_001182728.1:p.Lys253AsnfsTer6
NM_001195800.1:c.377_378insCATGTCTAGTCTCT NP_001182729.1:p.Lys126AsnfsTer6
NM_001195803.1:c.500_501insCATGTCTAGTCTCT NP_001182732.1:p.Lys167AsnfsTer6
XM_011528010.1:c.881_882insCATGTCTAGTCTCT XP_011526312.1:p.Lys294AsnfsTer6
XM_011528011.1:c.500_501insCATGTCTAGTCTCT XP_011526313.1:p.Lys167AsnfsTer6
XR_244074.2:n.1031_1032insCATGTCTAGTCTCT
XM_011528010.2:c.881_882insCATGTCTAGTCTCT XP_011526312.1:p.Lys294AsnfsTer6
XR_001753685.2:n.998_999insCATGTCTAGTCTCT
XR_001753686.2:n.998_999insCATGTCTAGTCTCT
NM_000527.5:c.881_882insCATGTCTAGTCTCT MANE Select NP_000518.1:p.Lys294AsnfsTer6
NM_001195798.2:c.881_882insCATGTCTAGTCTCT NP_001182727.1:p.Lys294AsnfsTer6
NM_001195799.2:c.758_759insCATGTCTAGTCTCT NP_001182728.1:p.Lys253AsnfsTer6
NM_001195800.2:c.377_378insCATGTCTAGTCTCT NP_001182729.1:p.Lys126AsnfsTer6
NM_001195803.2:c.500_501insCATGTCTAGTCTCT NP_001182732.1:p.Lys167AsnfsTer6
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