Canonical Allele Identifier: CA2665695234

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122844-GCCAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122845_49122848del , CM000665.2:g.49122845_49122848del	GRCh38
NC_000003.11:g.49160278_49160281del , CM000665.1:g.49160278_49160281del	GRCh37
NC_000003.10:g.49135282_49135285del	NCBI36
NG_008094.1:g.15319_15322del
NG_054716.1:g.3091_3094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4429_4432del MANE Select	ENSP00000307156.4:p.Val1477LeufsTer?
ENST00000305544.8:c.4429_4432del	ENSP00000307156.4:p.Val1477LeufsTer?
ENST00000418109.5:c.4429_4432del	ENSP00000388325.1:p.Val1477LeufsTer?
ENST00000469665.1:n.738_741del
NM_002292.3:c.4429_4432del	NP_002283.3:p.Val1477LeufsTer?
XM_005265127.3:c.4429_4432del	XP_005265184.1:p.Val1477LeufsTer?
XM_005265127.4:c.4429_4432del	XP_005265184.1:p.Val1477LeufsTer?
NM_002292.4:c.4429_4432del MANE Select	NP_002283.3:p.Val1477LeufsTer?