Canonical Allele Identifier: CA531314716

Gene: NBAS

Linked Data

• dbSNP Id: rs1360122549
• gnomAD v2: 2-15359047-A-ACTCCT
• MyVariant Identifiers: chr2:g.15359047_15359048insCTCCT (hg19) ; chr2:g.15218923_15218924insCTCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218923_15218924insCTCCT , CM000664.2:g.15218923_15218924insCTCCT	GRCh38
NC_000002.11:g.15359047_15359048insCTCCT , CM000664.1:g.15359047_15359048insCTCCT	GRCh37
NC_000002.10:g.15276498_15276499insCTCCT	NCBI36
NG_032964.1:g.347425_347426insAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4267_4268insAGGAG
ENST00000700062.1:c.4426+13498_4426+13499insAGGAG
ENST00000700063.1:c.792_793insAGGAG
ENST00000700064.1:c.2137_2138insAGGAG
ENST00000281513.10:c.6281_6282insAGGAG MANE Select	ENSP00000281513.5:p.Phe2095GlyfsTer27
ENST00000281513.9:c.6281_6282insAGGAG	ENSP00000281513.5:p.Phe2095GlyfsTer27
ENST00000417461.5:c.512+13498_512+13499insAGGAG	ENSP00000392421.1:n.512+13498_512+13499insAGGAG
ENST00000442506.5:c.3424_3425insAGGAG
NM_015909.3:c.6281_6282insAGGAG	NP_056993.2:p.Phe2095GlyfsTer27
NR_052013.2:n.6280+13498_6280+13499insAGGAG
XM_011510357.1:c.6152_6153insAGGAG	XP_011508659.1:p.Phe2052GlyfsTer27
XM_011510358.1:c.6281_6282insAGGAG	XP_011508660.1:p.Phe2095GlyfsTer27
XM_011510359.1:c.5642_5643insAGGAG	XP_011508661.1:p.Phe1882GlyfsTer27
XM_011510360.1:c.4082_4083insAGGAG	XP_011508662.1:p.Phe1362GlyfsTer27
XM_011510361.1:c.4073_4074insAGGAG	XP_011508663.1:p.Phe1359GlyfsTer27
XM_011510357.2:c.6152_6153insAGGAG	XP_011508659.1:p.Phe2052GlyfsTer27
XM_011510358.2:c.6281_6282insAGGAG	XP_011508660.1:p.Phe2095GlyfsTer27
XM_011510360.2:c.4082_4083insAGGAG	XP_011508662.1:p.Phe1362GlyfsTer27
XM_011510361.2:c.4073_4074insAGGAG	XP_011508663.1:p.Phe1359GlyfsTer27
XM_017004317.1:c.6281_6282insAGGAG	XP_016859806.1:p.Phe2095GlyfsTer27
XM_024452961.1:c.5642_5643insAGGAG	XP_024308729.1:p.Phe1882GlyfsTer27
NM_015909.4:c.6281_6282insAGGAG MANE Select	NP_056993.2:p.Phe2095GlyfsTer27
NR_052013.3:n.6266+13498_6266+13499insAGGAG