Canonical Allele Identifier: CA2490796201

Gene: NBAS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15218836_15218839delinsGTCC , CM000664.2:g.15218836_15218839delinsGTCC	GRCh38
NC_000002.11:g.15358960_15358963delinsGTCC , CM000664.1:g.15358960_15358963delinsGTCC	GRCh37
NC_000002.10:g.15276411_15276414delinsGTCC	NCBI36
NG_032964.1:g.347510_347513delinsGGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.4352_4355delinsGGAC
ENST00000700062.1:c.4426+13583_4426+13586delinsGGAC
ENST00000700063.1:c.877_880delinsGGAC
ENST00000700064.1:c.2222_2225delinsGGAC
ENST00000281513.10:c.6366_6369delinsGGAC MANE Select	ENSP00000281513.5:p.Glu2122=
ENST00000281513.9:c.6366_6369delinsGGAC	ENSP00000281513.5:p.Glu2122=
ENST00000417461.5:c.512+13583_512+13586delinsGGAC	ENSP00000392421.1:n.512+13583_512+13586delinsGGAC
ENST00000442506.5:c.3509_3512delinsGGAC
NM_015909.3:c.6366_6369delinsGGAC	NP_056993.2:p.Glu2122=
NR_052013.2:n.6280+13583_6280+13586delinsGGAC
XM_011510357.1:c.6237_6240delinsGGAC	XP_011508659.1:p.Glu2079=
XM_011510358.1:c.6366_6369delinsGGAC	XP_011508660.1:p.Glu2122=
XM_011510359.1:c.5727_5730delinsGGAC	XP_011508661.1:p.Glu1909=
XM_011510360.1:c.4167_4170delinsGGAC	XP_011508662.1:p.Glu1389=
XM_011510361.1:c.4158_4161delinsGGAC	XP_011508663.1:p.Glu1386=
XM_011510357.2:c.6237_6240delinsGGAC	XP_011508659.1:p.Glu2079=
XM_011510358.2:c.6366_6369delinsGGAC	XP_011508660.1:p.Glu2122=
XM_011510360.2:c.4167_4170delinsGGAC	XP_011508662.1:p.Glu1389=
XM_011510361.2:c.4158_4161delinsGGAC	XP_011508663.1:p.Glu1386=
XM_017004317.1:c.6366_6369delinsGGAC	XP_016859806.1:p.Glu2122=
XM_024452961.1:c.5727_5730delinsGGAC	XP_024308729.1:p.Glu1909=
NM_015909.4:c.6366_6369delinsGGAC MANE Select	NP_056993.2:p.Glu2122=
NR_052013.3:n.6266+13583_6266+13586delinsGGAC