Canonical Allele Identifier: CA759128934

Gene: NBAS

Linked Data

• dbSNP Id: rs1422359403
• gnomAD v3: 2-15424665-TCCC-T
• gnomAD v4: 2-15424665-TCCC-T
• MyVariant Identifiers: chr2:g.15564790_15564792del (hg19) ; chr2:g.15424666_15424668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424669_15424671del , CM000664.2:g.15424669_15424671del	GRCh38
NC_000002.11:g.15564793_15564795del , CM000664.1:g.15564793_15564795del	GRCh37
NC_000002.10:g.15482244_15482246del	NCBI36
NG_032964.1:g.141681_141683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.521-200_521-198del
ENST00000700062.1:c.521-200_521-198del
ENST00000700065.1:n.2437-200_2437-198del
ENST00000700066.1:c.1941-200_1941-198del	ENSP00000514780.1:n.1941-200_1941-198del
ENST00000281513.10:c.2424-200_2424-198del MANE Select	ENSP00000281513.5:n.2424-200_2424-198del
ENST00000281513.9:c.2424-200_2424-198del	ENSP00000281513.5:n.2424-200_2424-198del
NM_015909.3:c.2424-200_2424-198del	NP_056993.2:n.2424-200_2424-198del
NR_052013.2:n.2468-200_2468-198del
XM_011510357.1:c.2295-200_2295-198del	XP_011508659.1:n.2295-200_2295-198del
XM_011510358.1:c.2424-200_2424-198del	XP_011508660.1:n.2424-200_2424-198del
XM_011510359.1:c.1785-200_1785-198del	XP_011508661.1:n.1785-200_1785-198del
XM_011510360.1:c.225-200_225-198del	XP_011508662.1:n.225-200_225-198del
XM_011510361.1:c.216-200_216-198del	XP_011508663.1:n.216-200_216-198del
XM_011510357.2:c.2295-200_2295-198del	XP_011508659.1:n.2295-200_2295-198del
XM_011510358.2:c.2424-200_2424-198del	XP_011508660.1:n.2424-200_2424-198del
XM_011510360.2:c.225-200_225-198del	XP_011508662.1:n.225-200_225-198del
XM_011510361.2:c.216-200_216-198del	XP_011508663.1:n.216-200_216-198del
XM_017004317.1:c.2424-200_2424-198del	XP_016859806.1:n.2424-200_2424-198del
XM_024452961.1:c.1785-200_1785-198del	XP_024308729.1:n.1785-200_1785-198del
NM_015909.4:c.2424-200_2424-198del MANE Select	NP_056993.2:n.2424-200_2424-198del
NR_052013.3:n.2454-200_2454-198del