Canonical Allele Identifier: CA543042237
Gene: NBEAL2 HGNC NCBI

Linked Data

dbSNP Id: rs1398906407

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.47000378_47000380del , CM000665.2:g.47000378_47000380del GRCh38
NC_000003.11:g.47041868_47041870del , CM000665.1:g.47041868_47041870del GRCh37
NC_000003.10:g.47016872_47016874del NCBI36
NG_031914.1:g.25696_25698del , LRG_568:g.25696_25698del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450053.8:c.4279_4281del MANE Select ENSP00000415034.2:p.Asp1427del
ENST00000651747.1:c.4177_4179del ENSP00000499216.1:p.Asp1393del
ENST00000416683.5:c.2142_2144del
ENST00000450053.7:c.4279_4281del ENSP00000415034.2:p.Asp1427del
NM_015175.2:c.4279_4281del , LRG_568t1:c.4279_4281del NP_055990.1:p.Asp1427del
XM_005264992.2:c.4177_4179del XP_005265049.1:p.Asp1393del
XM_005264993.2:c.751_753del XP_005265050.1:p.Asp251del
XM_006713072.2:c.4198_4200del XP_006713135.1:p.Asp1400del
XM_011533532.1:c.4258_4260del XP_011531834.1:p.Asp1420del
XM_011533533.1:c.4279_4281del XP_011531835.1:p.Asp1427del
XM_011533534.1:c.3910_3912del XP_011531836.1:p.Asp1304del
XM_011533535.1:c.3739_3741del XP_011531837.1:p.Asp1247del
XM_011533536.1:c.3625_3627del XP_011531838.1:p.Asp1209del
XM_011533537.1:c.3187_3189del XP_011531839.1:p.Asp1063del
XR_940397.1:n.4455_4457del
XR_940398.1:n.4455_4457del
NM_001365116.1:c.4177_4179del NP_001352045.1:p.Asp1393del
XM_006713072.3:c.4198_4200del XP_006713135.1:p.Asp1400del
XM_011533533.2:c.4279_4281del XP_011531835.1:p.Asp1427del
XM_017006010.1:c.4279_4281del XP_016861499.1:p.Asp1427del
XM_017006011.1:c.4258_4260del XP_016861500.1:p.Asp1420del
XM_017006012.1:c.4198_4200del XP_016861501.1:p.Asp1400del
XM_017006013.1:c.4279_4281del XP_016861502.1:p.Asp1427del
XM_017006014.1:c.4177_4179del XP_016861503.1:p.Asp1393del
XM_017006015.1:c.3910_3912del XP_016861504.1:p.Asp1304del
XM_017006016.1:c.3739_3741del XP_016861505.1:p.Asp1247del
XM_017006017.1:c.751_753del XP_016861506.1:p.Asp251del
XR_940397.2:n.4455_4457del
NM_001365116.2:c.4177_4179del NP_001352045.1:p.Asp1393del
NM_015175.3:c.4279_4281del MANE Select NP_055990.1:p.Asp1427del