Canonical Allele Identifier: CA1321764627
Gene: NBEAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203016354_203016355delinsGA , CM000664.2:g.203016354_203016355delinsGA GRCh38
NC_000002.11:g.203881077_203881078delinsGA , CM000664.1:g.203881077_203881078delinsGA GRCh37
NC_000002.10:g.203589322_203589323delinsGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000463830.2:n.314_315delinsGA
ENST00000682077.1:n.316_317delinsGA
ENST00000682333.1:n.314_315delinsGA
ENST00000682787.1:c.-31_-30delinsGA ENSP00000507858.1:n.-31_-30delinsGA
ENST00000683091.1:c.-31_-30delinsGA ENSP00000506951.1:n.-31_-30delinsGA
ENST00000683927.1:n.303_304delinsGA
ENST00000683969.1:c.-31_-30delinsGA MANE Select ENSP00000508055.1:n.-31_-30delinsGA
ENST00000449802.5:c.-31_-30delinsGA ENSP00000399903.1:n.-31_-30delinsGA
ENST00000478884.5:n.257_258delinsGA
ENST00000492870.1:n.273_274delinsGA
ENST00000497505.5:n.303_304delinsGA
NM_001114132.1:c.-31_-30delinsGA NP_001107604.1:n.-31_-30delinsGA
XM_005246787.2:c.-31_-30delinsGA XP_005246844.1:n.-31_-30delinsGA
XM_006712698.2:c.-31_-30delinsGA XP_006712761.1:n.-31_-30delinsGA
XM_006712699.2:c.-31_-30delinsGA XP_006712762.1:n.-31_-30delinsGA
XM_006712700.2:c.-31_-30delinsGA XP_006712763.1:n.-31_-30delinsGA
XM_011511658.1:c.-31_-30delinsGA XP_011509960.1:n.-31_-30delinsGA
XM_011511659.1:c.-31_-30delinsGA XP_011509961.1:n.-31_-30delinsGA
XM_011511663.1:c.-31_-30delinsGA XP_011509965.1:n.-31_-30delinsGA
XM_011511664.1:c.-31_-30delinsGA XP_011509966.1:n.-31_-30delinsGA
XM_005246787.4:c.-31_-30delinsGA XP_005246844.1:n.-31_-30delinsGA
XM_006712698.4:c.-31_-30delinsGA XP_006712761.1:n.-31_-30delinsGA
XM_006712699.4:c.-31_-30delinsGA XP_006712762.1:n.-31_-30delinsGA
XM_011511658.3:c.-31_-30delinsGA XP_011509960.1:n.-31_-30delinsGA
XM_011511659.2:c.-31_-30delinsGA XP_011509961.1:n.-31_-30delinsGA
XM_011511663.3:c.-31_-30delinsGA XP_011509965.1:n.-31_-30delinsGA
NM_001114132.2:c.-31_-30delinsGA NP_001107604.1:n.-31_-30delinsGA
NM_001378026.1:c.-31_-30delinsGA MANE Select NP_001364955.1:n.-31_-30delinsGA