Canonical Allele Identifier: CA2490796189

Gene: NBAS

Linked Data

• dbSNP Id: rs1666775761
• gnomAD v4: 2-15218815-AAAGAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218817_15218822del , CM000664.2:g.15218817_15218822del	GRCh38
NC_000002.11:g.15358941_15358946del , CM000664.1:g.15358941_15358946del	GRCh37
NC_000002.10:g.15276392_15276397del	NCBI36
NG_032964.1:g.347528_347533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4370_4375del
ENST00000700062.1:c.4426+13601_4426+13606del
ENST00000700063.1:c.895_900del
ENST00000700064.1:c.2240_2245del
ENST00000281513.10:c.6384_6389del MANE Select	ENSP00000281513.5:p.Phe2129_Phe2130del
ENST00000281513.9:c.6384_6389del	ENSP00000281513.5:p.Phe2129_Phe2130del
ENST00000417461.5:c.512+13601_512+13606del	ENSP00000392421.1:n.512+13601_512+13606del
ENST00000442506.5:c.3527_3532del
NM_015909.3:c.6384_6389del	NP_056993.2:p.Phe2129_Phe2130del
NR_052013.2:n.6280+13601_6280+13606del
XM_011510357.1:c.6255_6260del	XP_011508659.1:p.Phe2086_Phe2087del
XM_011510358.1:c.6384_6389del	XP_011508660.1:p.Phe2129_Phe2130del
XM_011510359.1:c.5745_5750del	XP_011508661.1:p.Phe1916_Phe1917del
XM_011510360.1:c.4185_4190del	XP_011508662.1:p.Phe1396_Phe1397del
XM_011510361.1:c.4176_4181del	XP_011508663.1:p.Phe1393_Phe1394del
XM_011510357.2:c.6255_6260del	XP_011508659.1:p.Phe2086_Phe2087del
XM_011510358.2:c.6384_6389del	XP_011508660.1:p.Phe2129_Phe2130del
XM_011510360.2:c.4185_4190del	XP_011508662.1:p.Phe1396_Phe1397del
XM_011510361.2:c.4176_4181del	XP_011508663.1:p.Phe1393_Phe1394del
XM_017004317.1:c.6384_6389del	XP_016859806.1:p.Phe2129_Phe2130del
XM_024452961.1:c.5745_5750del	XP_024308729.1:p.Phe1916_Phe1917del
NM_015909.4:c.6384_6389del MANE Select	NP_056993.2:p.Phe2129_Phe2130del
NR_052013.3:n.6266+13601_6266+13606del