Canonical Allele Identifier: CA759056093

Gene: NBAS

Linked Data

• dbSNP Id: rs776797592
• gnomAD v3: 2-15402288-A-AT
• gnomAD v4: 2-15402288-A-AT
• MyVariant Identifiers: chr2:g.15542412_15542413insT (hg19) ; chr2:g.15402288_15402289insT (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000700061.1:c.1047dup
ENST00000700062.1:c.1047dup
ENST00000700065.1:n.2963dup
ENST00000281513.10:c.2950dup MANE Select	ENSP00000281513.5:p.Ile984AsnfsTer4
ENST00000281513.9:c.2950dup	ENSP00000281513.5:p.Ile984AsnfsTer4
ENST00000429842.1:c.242dup
ENST00000441755.5:c.91dup	ENSP00000396501.1:p.Ile31AsnfsTer4
ENST00000442506.5:c.93dup
NM_015909.3:c.2950dup	NP_056993.2:p.Ile984AsnfsTer4
NR_052013.2:n.2994dup
XM_011510357.1:c.2821dup	XP_011508659.1:p.Ile941AsnfsTer4
XM_011510358.1:c.2950dup	XP_011508660.1:p.Ile984AsnfsTer4
XM_011510359.1:c.2311dup	XP_011508661.1:p.Ile771AsnfsTer4
XM_011510360.1:c.751dup	XP_011508662.1:p.Ile251AsnfsTer4
XM_011510361.1:c.742dup	XP_011508663.1:p.Ile248AsnfsTer4
XM_011510357.2:c.2821dup	XP_011508659.1:p.Ile941AsnfsTer4
XM_011510358.2:c.2950dup	XP_011508660.1:p.Ile984AsnfsTer4
XM_011510360.2:c.751dup	XP_011508662.1:p.Ile251AsnfsTer4
XM_011510361.2:c.742dup	XP_011508663.1:p.Ile248AsnfsTer4
XM_017004317.1:c.2950dup	XP_016859806.1:p.Ile984AsnfsTer4
XM_024452961.1:c.2311dup	XP_024308729.1:p.Ile771AsnfsTer4
NM_015909.4:c.2950dup MANE Select	NP_056993.2:p.Ile984AsnfsTer4
NR_052013.3:n.2980dup