Canonical Allele Identifier: CA2576680242
Gene: NBAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15218901_15218908del , CM000664.2:g.15218901_15218908del GRCh38
NC_000002.11:g.15359025_15359032del , CM000664.1:g.15359025_15359032del GRCh37
NC_000002.10:g.15276476_15276483del NCBI36
NG_032964.1:g.347443_347450del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700061.1:c.4285_4292del
ENST00000700062.1:c.4426+13516_4426+13523del
ENST00000700063.1:c.810_817del
ENST00000700064.1:c.2155_2162del
ENST00000281513.10:c.6299_6306del MANE Select ENSP00000281513.5:p.Ala2100GlyfsTer19
ENST00000281513.9:c.6299_6306del ENSP00000281513.5:p.Ala2100GlyfsTer19
ENST00000417461.5:c.512+13516_512+13523del ENSP00000392421.1:n.512+13516_512+13523del
ENST00000442506.5:c.3442_3449del
NM_015909.3:c.6299_6306del NP_056993.2:p.Ala2100GlyfsTer19
NR_052013.2:n.6280+13516_6280+13523del
XM_011510357.1:c.6170_6177del XP_011508659.1:p.Ala2057GlyfsTer19
XM_011510358.1:c.6299_6306del XP_011508660.1:p.Ala2100GlyfsTer19
XM_011510359.1:c.5660_5667del XP_011508661.1:p.Ala1887GlyfsTer19
XM_011510360.1:c.4100_4107del XP_011508662.1:p.Ala1367GlyfsTer19
XM_011510361.1:c.4091_4098del XP_011508663.1:p.Ala1364GlyfsTer19
XM_011510357.2:c.6170_6177del XP_011508659.1:p.Ala2057GlyfsTer19
XM_011510358.2:c.6299_6306del XP_011508660.1:p.Ala2100GlyfsTer19
XM_011510360.2:c.4100_4107del XP_011508662.1:p.Ala1367GlyfsTer19
XM_011510361.2:c.4091_4098del XP_011508663.1:p.Ala1364GlyfsTer19
XM_017004317.1:c.6299_6306del XP_016859806.1:p.Ala2100GlyfsTer19
XM_024452961.1:c.5660_5667del XP_024308729.1:p.Ala1887GlyfsTer19
NM_015909.4:c.6299_6306del MANE Select NP_056993.2:p.Ala2100GlyfsTer19
NR_052013.3:n.6266+13516_6266+13523del