Canonical Allele Identifier: CA2665695212
Gene: LAMB2 HGNC NCBI

Linked Data

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

HGVS Genome Assembly
NC_000003.12:g.49122838_49122839insA , CM000665.2:g.49122838_49122839insA GRCh38
NC_000003.11:g.49160271_49160272insA , CM000665.1:g.49160271_49160272insA GRCh37
NC_000003.10:g.49135275_49135276insA NCBI36
NG_008094.1:g.15328_15329insT
NG_054716.1:g.3100_3101insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4438_4439insT MANE Select ENSP00000307156.4:p.Thr1480IlefsTer20
ENST00000305544.8:c.4438_4439insT ENSP00000307156.4:p.Thr1480IlefsTer20
ENST00000418109.5:c.4438_4439insT ENSP00000388325.1:p.Thr1480IlefsTer20
ENST00000469665.1:n.747_748insT
NM_002292.3:c.4438_4439insT NP_002283.3:p.Thr1480IlefsTer20
XM_005265127.3:c.4438_4439insT XP_005265184.1:p.Thr1480IlefsTer20
XM_005265127.4:c.4438_4439insT XP_005265184.1:p.Thr1480IlefsTer20
NM_002292.4:c.4438_4439insT MANE Select NP_002283.3:p.Thr1480IlefsTer20
Search 100 bp 5'
Search 100 bp 3'