Canonical Allele Identifier: CA2490889166
Gene: NBAS HGNC NCBI

Linked Data

dbSNP Id: rs1677333472

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15424041del , CM000664.2:g.15424041del GRCh38
NC_000002.11:g.15564165del , CM000664.1:g.15564165del GRCh37
NC_000002.10:g.15481616del NCBI36
NG_032964.1:g.142308del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700061.1:c.674+274del
ENST00000700062.1:c.674+274del
ENST00000700065.1:n.2590+274del
ENST00000700066.1:c.2094+274del ENSP00000514780.1:n.2094+274del
ENST00000281513.10:c.2577+274del MANE Select ENSP00000281513.5:n.2577+274del
ENST00000281513.9:c.2577+274del ENSP00000281513.5:n.2577+274del
ENST00000441755.5:c.78+274del ENSP00000396501.1:n.78+274del
ENST00000442506.5:c.80+274del
NM_015909.3:c.2577+274del NP_056993.2:n.2577+274del
NR_052013.2:n.2621+274del
XM_011510357.1:c.2448+274del XP_011508659.1:n.2448+274del
XM_011510358.1:c.2577+274del XP_011508660.1:n.2577+274del
XM_011510359.1:c.1938+274del XP_011508661.1:n.1938+274del
XM_011510360.1:c.378+274del XP_011508662.1:n.378+274del
XM_011510361.1:c.369+274del XP_011508663.1:n.369+274del
XM_011510357.2:c.2448+274del XP_011508659.1:n.2448+274del
XM_011510358.2:c.2577+274del XP_011508660.1:n.2577+274del
XM_011510360.2:c.378+274del XP_011508662.1:n.378+274del
XM_011510361.2:c.369+274del XP_011508663.1:n.369+274del
XM_017004317.1:c.2577+274del XP_016859806.1:n.2577+274del
XM_024452961.1:c.1938+274del XP_024308729.1:n.1938+274del
NM_015909.4:c.2577+274del MANE Select NP_056993.2:n.2577+274del
NR_052013.3:n.2607+274del