Canonical Allele Identifier: CA1536205
Gene: NBAS HGNC NCBI

Linked Data

ClinVar Variation Id: 501319
dbSNP Id: rs776797592

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15402294del , CM000664.2:g.15402294del GRCh38
NC_000002.11:g.15542418del , CM000664.1:g.15542418del GRCh37
NC_000002.10:g.15459869del NCBI36
NG_032964.1:g.164060del

Transcript Alleles

HGVS Amino-acid change
ENST00000700061.1:c.1047del
ENST00000700062.1:c.1047del
ENST00000700065.1:n.2963del
ENST00000281513.10:c.2950del MANE Select ENSP00000281513.5:p.Ile984LeufsTer8
ENST00000281513.9:c.2950del ENSP00000281513.5:p.Ile984LeufsTer8
ENST00000429842.1:c.242del
ENST00000441755.5:c.91del ENSP00000396501.1:p.Ile31LeufsTer8
ENST00000442506.5:c.93del
NM_015909.3:c.2950del NP_056993.2:p.Ile984LeufsTer8
NR_052013.2:n.2994del
XM_011510357.1:c.2821del XP_011508659.1:p.Ile941LeufsTer8
XM_011510358.1:c.2950del XP_011508660.1:p.Ile984LeufsTer8
XM_011510359.1:c.2311del XP_011508661.1:p.Ile771LeufsTer8
XM_011510360.1:c.751del XP_011508662.1:p.Ile251LeufsTer8
XM_011510361.1:c.742del XP_011508663.1:p.Ile248LeufsTer8
XM_011510357.2:c.2821del XP_011508659.1:p.Ile941LeufsTer8
XM_011510358.2:c.2950del XP_011508660.1:p.Ile984LeufsTer8
XM_011510360.2:c.751del XP_011508662.1:p.Ile251LeufsTer8
XM_011510361.2:c.742del XP_011508663.1:p.Ile248LeufsTer8
XM_017004317.1:c.2950del XP_016859806.1:p.Ile984LeufsTer8
XM_024452961.1:c.2311del XP_024308729.1:p.Ile771LeufsTer8
NM_015909.4:c.2950del MANE Select NP_056993.2:p.Ile984LeufsTer8
NR_052013.3:n.2980del