Canonical Allele Identifier: CA2665695364
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122879-T-TATCATTAAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122879_49122880insATCATTAAAAA , CM000665.2:g.49122879_49122880insATCATTAAAAA GRCh38
NC_000003.11:g.49160312_49160313insATCATTAAAAA , CM000665.1:g.49160312_49160313insATCATTAAAAA GRCh37
NC_000003.10:g.49135316_49135317insATCATTAAAAA NCBI36
NG_008094.1:g.15287_15288insTTTTTAATGAT
NG_054716.1:g.3059_3060insTTTTTAATGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4397_4398insTTTTTAATGAT MANE Select ENSP00000307156.4:p.Leu1467PhefsTer2
ENST00000305544.8:c.4397_4398insTTTTTAATGAT ENSP00000307156.4:p.Leu1467PhefsTer2
ENST00000418109.5:c.4397_4398insTTTTTAATGAT ENSP00000388325.1:p.Leu1467PhefsTer2
ENST00000469665.1:n.706_707insTTTTTAATGAT
NM_002292.3:c.4397_4398insTTTTTAATGAT NP_002283.3:p.Leu1467PhefsTer2
XM_005265127.3:c.4397_4398insTTTTTAATGAT XP_005265184.1:p.Leu1467PhefsTer2
XM_005265127.4:c.4397_4398insTTTTTAATGAT XP_005265184.1:p.Leu1467PhefsTer2
NM_002292.4:c.4397_4398insTTTTTAATGAT MANE Select NP_002283.3:p.Leu1467PhefsTer2
Search 100 bp 5'
Search 100 bp 3'