Canonical Allele Identifier: CA2665695252
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122847-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122847_49122848insT , CM000665.2:g.49122847_49122848insT GRCh38
NC_000003.11:g.49160280_49160281insT , CM000665.1:g.49160280_49160281insT GRCh37
NC_000003.10:g.49135284_49135285insT NCBI36
NG_008094.1:g.15319_15320insA
NG_054716.1:g.3091_3092insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4429_4430insA MANE Select ENSP00000307156.4:p.Val1477AspfsTer3
ENST00000305544.8:c.4429_4430insA ENSP00000307156.4:p.Val1477AspfsTer3
ENST00000418109.5:c.4429_4430insA ENSP00000388325.1:p.Val1477AspfsTer3
ENST00000469665.1:n.738_739insA
NM_002292.3:c.4429_4430insA NP_002283.3:p.Val1477AspfsTer3
XM_005265127.3:c.4429_4430insA XP_005265184.1:p.Val1477AspfsTer3
XM_005265127.4:c.4429_4430insA XP_005265184.1:p.Val1477AspfsTer3
NM_002292.4:c.4429_4430insA MANE Select NP_002283.3:p.Val1477AspfsTer3
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