Canonical Allele Identifier: CA2657930725

Gene: NBAS

Linked Data

• gnomAD v4: 2-15218885-A-ATGCGGGGCCGCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218886_15218898dup , CM000664.2:g.15218886_15218898dup	GRCh38
NC_000002.11:g.15359010_15359022dup , CM000664.1:g.15359010_15359022dup	GRCh37
NC_000002.10:g.15276461_15276473dup	NCBI36
NG_032964.1:g.347451_347463dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4293_4305dup
ENST00000700062.1:c.4426+13524_4426+13536dup
ENST00000700063.1:c.818_830dup
ENST00000700064.1:c.2163_2175dup
ENST00000281513.10:c.6307_6319dup MANE Select	ENSP00000281513.5:p.Ile2107SerfsTer19
ENST00000281513.9:c.6307_6319dup	ENSP00000281513.5:p.Ile2107SerfsTer19
ENST00000417461.5:c.512+13524_512+13536dup	ENSP00000392421.1:n.512+13524_512+13536dup
ENST00000442506.5:c.3450_3462dup
NM_015909.3:c.6307_6319dup	NP_056993.2:p.Ile2107SerfsTer19
NR_052013.2:n.6280+13524_6280+13536dup
XM_011510357.1:c.6178_6190dup	XP_011508659.1:p.Ile2064SerfsTer19
XM_011510358.1:c.6307_6319dup	XP_011508660.1:p.Ile2107SerfsTer19
XM_011510359.1:c.5668_5680dup	XP_011508661.1:p.Ile1894SerfsTer19
XM_011510360.1:c.4108_4120dup	XP_011508662.1:p.Ile1374SerfsTer19
XM_011510361.1:c.4099_4111dup	XP_011508663.1:p.Ile1371SerfsTer19
XM_011510357.2:c.6178_6190dup	XP_011508659.1:p.Ile2064SerfsTer19
XM_011510358.2:c.6307_6319dup	XP_011508660.1:p.Ile2107SerfsTer19
XM_011510360.2:c.4108_4120dup	XP_011508662.1:p.Ile1374SerfsTer19
XM_011510361.2:c.4099_4111dup	XP_011508663.1:p.Ile1371SerfsTer19
XM_017004317.1:c.6307_6319dup	XP_016859806.1:p.Ile2107SerfsTer19
XM_024452961.1:c.5668_5680dup	XP_024308729.1:p.Ile1894SerfsTer19
NM_015909.4:c.6307_6319dup MANE Select	NP_056993.2:p.Ile2107SerfsTer19
NR_052013.3:n.6266+13524_6266+13536dup