Canonical Allele Identifier: CA2665695198
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122831-CCGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122835_49122837del , CM000665.2:g.49122835_49122837del GRCh38
NC_000003.11:g.49160268_49160270del , CM000665.1:g.49160268_49160270del GRCh37
NC_000003.10:g.49135272_49135274del NCBI36
NG_008094.1:g.15333_15335del
NG_054716.1:g.3105_3107del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4443_4445del MANE Select ENSP00000307156.4:p.Arg1482del
ENST00000305544.8:c.4443_4445del ENSP00000307156.4:p.Arg1482del
ENST00000418109.5:c.4443_4445del ENSP00000388325.1:p.Arg1482del
ENST00000469665.1:n.752_754del
NM_002292.3:c.4443_4445del NP_002283.3:p.Arg1482del
XM_005265127.3:c.4443_4445del XP_005265184.1:p.Arg1482del
XM_005265127.4:c.4443_4445del XP_005265184.1:p.Arg1482del
NM_002292.4:c.4443_4445del MANE Select NP_002283.3:p.Arg1482del
Search 100 bp 5'
Search 100 bp 3'