Canonical Allele Identifier: CA758915191

Gene: NBAS

Linked Data

• dbSNP Id: rs1167053665
• MyVariant Identifiers: chr2:g.15359043_15359044insGAAAG (hg19) ; chr2:g.15218919_15218920insGAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218921_15218925dup , CM000664.2:g.15218921_15218925dup	GRCh38
NC_000002.11:g.15359045_15359049dup , CM000664.1:g.15359045_15359049dup	GRCh37
NC_000002.10:g.15276496_15276500dup	NCBI36
NG_032964.1:g.347425_347429dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4267_4271dup
ENST00000700062.1:c.4426+13498_4426+13502dup
ENST00000700063.1:c.792_796dup
ENST00000700064.1:c.2137_2141dup
ENST00000281513.10:c.6281_6285dup MANE Select	ENSP00000281513.5:p.Cys2096LeufsTer26
ENST00000281513.9:c.6281_6285dup	ENSP00000281513.5:p.Cys2096LeufsTer26
ENST00000417461.5:c.512+13498_512+13502dup	ENSP00000392421.1:n.512+13498_512+13502dup
ENST00000442506.5:c.3424_3428dup
NM_015909.3:c.6281_6285dup	NP_056993.2:p.Cys2096LeufsTer26
NR_052013.2:n.6280+13498_6280+13502dup
XM_011510357.1:c.6152_6156dup	XP_011508659.1:p.Cys2053LeufsTer26
XM_011510358.1:c.6281_6285dup	XP_011508660.1:p.Cys2096LeufsTer26
XM_011510359.1:c.5642_5646dup	XP_011508661.1:p.Cys1883LeufsTer26
XM_011510360.1:c.4082_4086dup	XP_011508662.1:p.Cys1363LeufsTer26
XM_011510361.1:c.4073_4077dup	XP_011508663.1:p.Cys1360LeufsTer26
XM_011510357.2:c.6152_6156dup	XP_011508659.1:p.Cys2053LeufsTer26
XM_011510358.2:c.6281_6285dup	XP_011508660.1:p.Cys2096LeufsTer26
XM_011510360.2:c.4082_4086dup	XP_011508662.1:p.Cys1363LeufsTer26
XM_011510361.2:c.4073_4077dup	XP_011508663.1:p.Cys1360LeufsTer26
XM_017004317.1:c.6281_6285dup	XP_016859806.1:p.Cys2096LeufsTer26
XM_024452961.1:c.5642_5646dup	XP_024308729.1:p.Cys1883LeufsTer26
NM_015909.4:c.6281_6285dup MANE Select	NP_056993.2:p.Cys2096LeufsTer26
NR_052013.3:n.6266+13498_6266+13502dup