Canonical Allele Identifier: CA531034497

Gene: NBAS

Linked Data

• dbSNP Id: rs1423787736
• gnomAD v2: 2-15564655-TGA-T
• gnomAD v4: 2-15424531-TGA-T
• MyVariant Identifiers: chr2:g.15564656_15564657del (hg19) ; chr2:g.15424532_15424533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424536_15424537del , CM000664.2:g.15424536_15424537del	GRCh38
NC_000002.11:g.15564660_15564661del , CM000664.1:g.15564660_15564661del	GRCh37
NC_000002.10:g.15482111_15482112del	NCBI36
NG_032964.1:g.141816_141817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.521-65_521-64del
ENST00000700062.1:c.521-65_521-64del
ENST00000700065.1:n.2437-65_2437-64del
ENST00000700066.1:c.1941-65_1941-64del	ENSP00000514780.1:n.1941-65_1941-64del
ENST00000281513.10:c.2424-65_2424-64del MANE Select	ENSP00000281513.5:n.2424-65_2424-64del
ENST00000281513.9:c.2424-65_2424-64del	ENSP00000281513.5:n.2424-65_2424-64del
NM_015909.3:c.2424-65_2424-64del	NP_056993.2:n.2424-65_2424-64del
NR_052013.2:n.2468-65_2468-64del
XM_011510357.1:c.2295-65_2295-64del	XP_011508659.1:n.2295-65_2295-64del
XM_011510358.1:c.2424-65_2424-64del	XP_011508660.1:n.2424-65_2424-64del
XM_011510359.1:c.1785-65_1785-64del	XP_011508661.1:n.1785-65_1785-64del
XM_011510360.1:c.225-65_225-64del	XP_011508662.1:n.225-65_225-64del
XM_011510361.1:c.216-65_216-64del	XP_011508663.1:n.216-65_216-64del
XM_011510357.2:c.2295-65_2295-64del	XP_011508659.1:n.2295-65_2295-64del
XM_011510358.2:c.2424-65_2424-64del	XP_011508660.1:n.2424-65_2424-64del
XM_011510360.2:c.225-65_225-64del	XP_011508662.1:n.225-65_225-64del
XM_011510361.2:c.216-65_216-64del	XP_011508663.1:n.216-65_216-64del
XM_017004317.1:c.2424-65_2424-64del	XP_016859806.1:n.2424-65_2424-64del
XM_024452961.1:c.1785-65_1785-64del	XP_024308729.1:n.1785-65_1785-64del
NM_015909.4:c.2424-65_2424-64del MANE Select	NP_056993.2:n.2424-65_2424-64del
NR_052013.3:n.2454-65_2454-64del