Canonical Allele Identifier: CA759128884

Gene: NBAS

Linked Data

• dbSNP Id: rs1283904786
• gnomAD v4: 2-15424568-GAGAC-G
• MyVariant Identifiers: chr2:g.15564693_15564696del (hg19) ; chr2:g.15424569_15424572del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424571_15424574del , CM000664.2:g.15424571_15424574del	GRCh38
NC_000002.11:g.15564695_15564698del , CM000664.1:g.15564695_15564698del	GRCh37
NC_000002.10:g.15482146_15482149del	NCBI36
NG_032964.1:g.141777_141780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.521-104_521-101del
ENST00000700062.1:c.521-104_521-101del
ENST00000700065.1:n.2437-104_2437-101del
ENST00000700066.1:c.1941-104_1941-101del	ENSP00000514780.1:n.1941-104_1941-101del
ENST00000281513.10:c.2424-104_2424-101del MANE Select	ENSP00000281513.5:n.2424-104_2424-101del
ENST00000281513.9:c.2424-104_2424-101del	ENSP00000281513.5:n.2424-104_2424-101del
NM_015909.3:c.2424-104_2424-101del	NP_056993.2:n.2424-104_2424-101del
NR_052013.2:n.2468-104_2468-101del
XM_011510357.1:c.2295-104_2295-101del	XP_011508659.1:n.2295-104_2295-101del
XM_011510358.1:c.2424-104_2424-101del	XP_011508660.1:n.2424-104_2424-101del
XM_011510359.1:c.1785-104_1785-101del	XP_011508661.1:n.1785-104_1785-101del
XM_011510360.1:c.225-104_225-101del	XP_011508662.1:n.225-104_225-101del
XM_011510361.1:c.216-104_216-101del	XP_011508663.1:n.216-104_216-101del
XM_011510357.2:c.2295-104_2295-101del	XP_011508659.1:n.2295-104_2295-101del
XM_011510358.2:c.2424-104_2424-101del	XP_011508660.1:n.2424-104_2424-101del
XM_011510360.2:c.225-104_225-101del	XP_011508662.1:n.225-104_225-101del
XM_011510361.2:c.216-104_216-101del	XP_011508663.1:n.216-104_216-101del
XM_017004317.1:c.2424-104_2424-101del	XP_016859806.1:n.2424-104_2424-101del
XM_024452961.1:c.1785-104_1785-101del	XP_024308729.1:n.1785-104_1785-101del
NM_015909.4:c.2424-104_2424-101del MANE Select	NP_056993.2:n.2424-104_2424-101del
NR_052013.3:n.2454-104_2454-101del