Canonical Allele Identifier: CA16617251
Gene: NBAS HGNC NCBI

Linked Data

ClinVar Variation Id: 421538
ClinVar RCV Id: RCV000483774
dbSNP Id: rs1064795199

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15558623del , CM000664.2:g.15558623del GRCh38
NC_000002.11:g.15698747del , CM000664.1:g.15698747del GRCh37
NC_000002.10:g.15616198del NCBI36
NG_032964.1:g.7727del

Transcript Alleles

HGVS Amino-acid change
ENST00000700065.1:n.143del
ENST00000700067.1:n.145del
ENST00000700068.1:n.145del
ENST00000700069.1:c.130del ENSP00000514781.1:p.Gln44LysfsTer?
ENST00000700070.1:c.130del ENSP00000514782.1:p.Gln44LysfsTer?
ENST00000700071.1:n.160del
ENST00000700072.1:n.140del
ENST00000700073.1:n.98del
ENST00000281513.10:c.130del MANE Select ENSP00000281513.5:p.Gln44LysfsTer?
ENST00000281513.9:c.130del ENSP00000281513.5:p.Gln44LysfsTer?
NM_015909.3:c.130del NP_056993.2:p.Gln44LysfsTer?
NR_052013.2:n.174del
XM_011510357.1:c.130del XP_011508659.1:p.Gln44LysfsTer?
XM_011510358.1:c.130del XP_011508660.1:p.Gln44LysfsTer?
XM_011510357.2:c.130del XP_011508659.1:p.Gln44LysfsTer?
XM_011510358.2:c.130del XP_011508660.1:p.Gln44LysfsTer?
XM_017004317.1:c.130del XP_016859806.1:p.Gln44LysfsTer?
XM_024452961.1:c.-242del XP_024308729.1:n.-242del
NM_015909.4:c.130del MANE Select NP_056993.2:p.Gln44LysfsTer?
NR_052013.3:n.160del