Canonical Allele Identifier: CA1363340094
Gene: LAMB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123227_49123230delinsCCTT , CM000665.2:g.49123227_49123230delinsCCTT GRCh38
NC_000003.11:g.49160660_49160663delinsCCTT , CM000665.1:g.49160660_49160663delinsCCTT GRCh37
NC_000003.10:g.49135664_49135667delinsCCTT NCBI36
NG_008094.1:g.14937_14940delinsAAGG
NG_054716.1:g.2709_2712delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4126_4129delinsAAGG MANE Select ENSP00000307156.4:p.Lys1376=
ENST00000305544.8:c.4126_4129delinsAAGG ENSP00000307156.4:p.Lys1376=
ENST00000418109.5:c.4126_4129delinsAAGG ENSP00000388325.1:p.Lys1376=
ENST00000469665.1:n.356_359delinsAAGG
NM_002292.3:c.4126_4129delinsAAGG NP_002283.3:p.Lys1376=
XM_005265127.3:c.4126_4129delinsAAGG XP_005265184.1:p.Lys1376=
XM_005265127.4:c.4126_4129delinsAAGG XP_005265184.1:p.Lys1376=
NM_002292.4:c.4126_4129delinsAAGG MANE Select NP_002283.3:p.Lys1376=