Canonical Allele Identifier: CA16617250
Gene: NBAS HGNC NCBI

Linked Data

ClinVar Variation Id: 421958
ClinVar RCV Id: RCV000479066
dbSNP Id: rs1064795471

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15218892del , CM000664.2:g.15218892del GRCh38
NC_000002.11:g.15359016del , CM000664.1:g.15359016del GRCh37
NC_000002.10:g.15276467del NCBI36
NG_032964.1:g.347460del

Transcript Alleles

HGVS Amino-acid change
ENST00000700061.1:c.4302del
ENST00000700062.1:c.4426+13533del
ENST00000700063.1:c.827del
ENST00000700064.1:c.2172del
ENST00000281513.10:c.6316del MANE Select ENSP00000281513.5:p.Arg2106AlafsTer14
ENST00000281513.9:c.6316del ENSP00000281513.5:p.Arg2106AlafsTer14
ENST00000417461.5:c.512+13533del ENSP00000392421.1:n.512+13533del
ENST00000442506.5:c.3459del
NM_015909.3:c.6316del NP_056993.2:p.Arg2106AlafsTer14
NR_052013.2:n.6280+13533del
XM_011510357.1:c.6187del XP_011508659.1:p.Arg2063AlafsTer14
XM_011510358.1:c.6316del XP_011508660.1:p.Arg2106AlafsTer14
XM_011510359.1:c.5677del XP_011508661.1:p.Arg1893AlafsTer14
XM_011510360.1:c.4117del XP_011508662.1:p.Arg1373AlafsTer14
XM_011510361.1:c.4108del XP_011508663.1:p.Arg1370AlafsTer14
XM_011510357.2:c.6187del XP_011508659.1:p.Arg2063AlafsTer14
XM_011510358.2:c.6316del XP_011508660.1:p.Arg2106AlafsTer14
XM_011510360.2:c.4117del XP_011508662.1:p.Arg1373AlafsTer14
XM_011510361.2:c.4108del XP_011508663.1:p.Arg1370AlafsTer14
XM_017004317.1:c.6316del XP_016859806.1:p.Arg2106AlafsTer14
XM_024452961.1:c.5677del XP_024308729.1:p.Arg1893AlafsTer14
NM_015909.4:c.6316del MANE Select NP_056993.2:p.Arg2106AlafsTer14
NR_052013.3:n.6266+13533del