Canonical Allele Identifier: CA424866933

Gene: NBAS

Linked Data

• dbSNP Id: rs1196322632
• gnomAD v2: 2-15358960-GTCC-G
• gnomAD v4: 2-15218836-GTCC-G
• MyVariant Identifiers: chr2:g.15358961_15358963del (hg19) ; chr2:g.15218837_15218839del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218842_15218844del , CM000664.2:g.15218842_15218844del	GRCh38
NC_000002.11:g.15358966_15358968del , CM000664.1:g.15358966_15358968del	GRCh37
NC_000002.10:g.15276417_15276419del	NCBI36
NG_032964.1:g.347510_347512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4352_4354del
ENST00000700062.1:c.4426+13583_4426+13585del
ENST00000700063.1:c.877_879del
ENST00000700064.1:c.2222_2224del
ENST00000281513.10:c.6366_6368del MANE Select	ENSP00000281513.5:p.Glu2122del
ENST00000281513.9:c.6366_6368del	ENSP00000281513.5:p.Glu2122del
ENST00000417461.5:c.512+13583_512+13585del	ENSP00000392421.1:n.512+13583_512+13585del
ENST00000442506.5:c.3509_3511del
NM_015909.3:c.6366_6368del	NP_056993.2:p.Glu2122del
NR_052013.2:n.6280+13583_6280+13585del
XM_011510357.1:c.6237_6239del	XP_011508659.1:p.Glu2079del
XM_011510358.1:c.6366_6368del	XP_011508660.1:p.Glu2122del
XM_011510359.1:c.5727_5729del	XP_011508661.1:p.Glu1909del
XM_011510360.1:c.4167_4169del	XP_011508662.1:p.Glu1389del
XM_011510361.1:c.4158_4160del	XP_011508663.1:p.Glu1386del
XM_011510357.2:c.6237_6239del	XP_011508659.1:p.Glu2079del
XM_011510358.2:c.6366_6368del	XP_011508660.1:p.Glu2122del
XM_011510360.2:c.4167_4169del	XP_011508662.1:p.Glu1389del
XM_011510361.2:c.4158_4160del	XP_011508663.1:p.Glu1386del
XM_017004317.1:c.6366_6368del	XP_016859806.1:p.Glu2122del
XM_024452961.1:c.5727_5729del	XP_024308729.1:p.Glu1909del
NM_015909.4:c.6366_6368del MANE Select	NP_056993.2:p.Glu2122del
NR_052013.3:n.6266+13583_6266+13585del