Canonical Allele Identifier: CA1363339808

Gene: LAMB2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122981_49122984delinsATCC , CM000665.2:g.49122981_49122984delinsATCC	GRCh38
NC_000003.11:g.49160414_49160417delinsATCC , CM000665.1:g.49160414_49160417delinsATCC	GRCh37
NC_000003.10:g.49135418_49135421delinsATCC	NCBI36
NG_008094.1:g.15183_15186delinsGGAT
NG_054716.1:g.2955_2958delinsGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4293_4296delinsGGAT MANE Select	ENSP00000307156.4:p.Glu1431=
ENST00000305544.8:c.4293_4296delinsGGAT	ENSP00000307156.4:p.Glu1431=
ENST00000418109.5:c.4293_4296delinsGGAT	ENSP00000388325.1:p.Glu1431=
ENST00000469665.1:n.602_605delinsGGAT
NM_002292.3:c.4293_4296delinsGGAT	NP_002283.3:p.Glu1431=
XM_005265127.3:c.4293_4296delinsGGAT	XP_005265184.1:p.Glu1431=
XM_005265127.4:c.4293_4296delinsGGAT	XP_005265184.1:p.Glu1431=
NM_002292.4:c.4293_4296delinsGGAT MANE Select	NP_002283.3:p.Glu1431=