Canonical Allele Identifier: CA2657930724

Gene: NBAS

Linked Data

• gnomAD v4: 2-15218842-CTCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218847_15218850del , CM000664.2:g.15218847_15218850del	GRCh38
NC_000002.11:g.15358971_15358974del , CM000664.1:g.15358971_15358974del	GRCh37
NC_000002.10:g.15276422_15276425del	NCBI36
NG_032964.1:g.347503_347506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4345_4348del
ENST00000700062.1:c.4426+13576_4426+13579del
ENST00000700063.1:c.870_873del
ENST00000700064.1:c.2215_2218del
ENST00000281513.10:c.6359_6362del MANE Select	ENSP00000281513.5:p.Thr2120ArgfsTer25
ENST00000281513.9:c.6359_6362del	ENSP00000281513.5:p.Thr2120ArgfsTer25
ENST00000417461.5:c.512+13576_512+13579del	ENSP00000392421.1:n.512+13576_512+13579del
ENST00000442506.5:c.3502_3505del
NM_015909.3:c.6359_6362del	NP_056993.2:p.Thr2120ArgfsTer25
NR_052013.2:n.6280+13576_6280+13579del
XM_011510357.1:c.6230_6233del	XP_011508659.1:p.Thr2077ArgfsTer25
XM_011510358.1:c.6359_6362del	XP_011508660.1:p.Thr2120ArgfsTer25
XM_011510359.1:c.5720_5723del	XP_011508661.1:p.Thr1907ArgfsTer25
XM_011510360.1:c.4160_4163del	XP_011508662.1:p.Thr1387ArgfsTer25
XM_011510361.1:c.4151_4154del	XP_011508663.1:p.Thr1384ArgfsTer25
XM_011510357.2:c.6230_6233del	XP_011508659.1:p.Thr2077ArgfsTer25
XM_011510358.2:c.6359_6362del	XP_011508660.1:p.Thr2120ArgfsTer25
XM_011510360.2:c.4160_4163del	XP_011508662.1:p.Thr1387ArgfsTer25
XM_011510361.2:c.4151_4154del	XP_011508663.1:p.Thr1384ArgfsTer25
XM_017004317.1:c.6359_6362del	XP_016859806.1:p.Thr2120ArgfsTer25
XM_024452961.1:c.5720_5723del	XP_024308729.1:p.Thr1907ArgfsTer25
NM_015909.4:c.6359_6362del MANE Select	NP_056993.2:p.Thr2120ArgfsTer25
NR_052013.3:n.6266+13576_6266+13579del