Canonical Allele Identifier: CA2665695213
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122838-GTCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122839_49122841del , CM000665.2:g.49122839_49122841del GRCh38
NC_000003.11:g.49160272_49160274del , CM000665.1:g.49160272_49160274del GRCh37
NC_000003.10:g.49135276_49135278del NCBI36
NG_008094.1:g.15326_15328del
NG_054716.1:g.3098_3100del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4436_4438del MANE Select ENSP00000307156.4:p.Glu1479_Thr1480delinsAla
ENST00000305544.8:c.4436_4438del ENSP00000307156.4:p.Glu1479_Thr1480delinsAla
ENST00000418109.5:c.4436_4438del ENSP00000388325.1:p.Glu1479_Thr1480delinsAla
ENST00000469665.1:n.745_747del
NM_002292.3:c.4436_4438del NP_002283.3:p.Glu1479_Thr1480delinsAla
XM_005265127.3:c.4436_4438del XP_005265184.1:p.Glu1479_Thr1480delinsAla
XM_005265127.4:c.4436_4438del XP_005265184.1:p.Glu1479_Thr1480delinsAla
NM_002292.4:c.4436_4438del MANE Select NP_002283.3:p.Glu1479_Thr1480delinsAla
Search 100 bp 5'
Search 100 bp 3'