Canonical Allele Identifier: CA2665493248

Gene: NBEAL2

Linked Data

• gnomAD v4: 3-47000249-A-AGATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000250_47000251insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG , CM000665.2:g.47000250_47000251insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	GRCh38
NC_000003.11:g.47041740_47041741insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG , CM000665.1:g.47041740_47041741insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	GRCh37
NC_000003.10:g.47016744_47016745insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	NCBI36
NG_031914.1:g.25568_25569insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG , LRG_568:g.25568_25569insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG MANE Select	ENSP00000415034.2:p.Ser1384ArgfsTer?
ENST00000651747.1:c.4049_4050insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	ENSP00000499216.1:p.Ser1350ArgfsTer?
ENST00000416683.5:c.2014_2015insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG
ENST00000450053.7:c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	ENSP00000415034.2:p.Ser1384ArgfsTer?
NM_015175.2:c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG , LRG_568t1:c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	NP_055990.1:p.Ser1384ArgfsTer?
XM_005264992.2:c.4049_4050insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_005265049.1:p.Ser1350ArgfsTer?
XM_005264993.2:c.623_624insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_005265050.1:p.Ser208ArgfsTer?
XM_006713072.2:c.4070_4071insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_006713135.1:p.Ser1357ArgfsTer?
XM_011533532.1:c.4130_4131insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_011531834.1:p.Ser1377ArgfsTer?
XM_011533533.1:c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_011531835.1:p.Ser1384ArgfsTer?
XM_011533534.1:c.3782_3783insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_011531836.1:p.Ser1261ArgfsTer?
XM_011533535.1:c.3611_3612insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_011531837.1:p.Ser1204ArgfsTer?
XM_011533536.1:c.3497_3498insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_011531838.1:p.Ser1166ArgfsTer?
XM_011533537.1:c.3059_3060insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_011531839.1:p.Ser1020ArgfsTer?
XR_940397.1:n.4327_4328insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG
XR_940398.1:n.4327_4328insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG
NM_001365116.1:c.4049_4050insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	NP_001352045.1:p.Ser1350ArgfsTer?
XM_006713072.3:c.4070_4071insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_006713135.1:p.Ser1357ArgfsTer?
XM_011533533.2:c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_011531835.1:p.Ser1384ArgfsTer?
XM_017006010.1:c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_016861499.1:p.Ser1384ArgfsTer?
XM_017006011.1:c.4130_4131insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_016861500.1:p.Ser1377ArgfsTer?
XM_017006012.1:c.4070_4071insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_016861501.1:p.Ser1357ArgfsTer?
XM_017006013.1:c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_016861502.1:p.Ser1384ArgfsTer?
XM_017006014.1:c.4049_4050insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_016861503.1:p.Ser1350ArgfsTer?
XM_017006015.1:c.3782_3783insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_016861504.1:p.Ser1261ArgfsTer?
XM_017006016.1:c.3611_3612insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_016861505.1:p.Ser1204ArgfsTer?
XM_017006017.1:c.623_624insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	XP_016861506.1:p.Ser208ArgfsTer?
XR_940397.2:n.4327_4328insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG
NM_001365116.2:c.4049_4050insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG	NP_001352045.1:p.Ser1350ArgfsTer?
NM_015175.3:c.4151_4152insATCCTGCGCAGACTGCAGCAGAATGAGCGGCTACCTGAGCGGAGCCG MANE Select	NP_055990.1:p.Ser1384ArgfsTer?