Canonical Allele Identifier: CA1329079910

Gene: NHEJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146729_219146733delinsTTCAA , CM000664.2:g.219146729_219146733delinsTTCAA	GRCh38
NC_000002.11:g.220011451_220011455delinsTTCAA , CM000664.1:g.220011451_220011455delinsTTCAA	GRCh37
NC_000002.10:g.219719695_219719699delinsTTCAA	NCBI36
NG_007880.1:g.19133_19137delinsTTGAA , LRG_90:g.19133_19137delinsTTGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000426304.6:c.535_539delinsTTGAA	ENSP00000394896.2:p.Leu179=
ENST00000457600.3:c.535_539delinsTTGAA	ENSP00000407201.2:p.Leu179=
ENST00000698174.1:c.535_539delinsTTGAA	ENSP00000513594.1:p.Leu179=
ENST00000698175.1:c.*282_*286delinsTTGAA	ENSP00000513595.1:n.*282_*286delinsTTGAA
ENST00000698176.1:n.607_611delinsTTGAA
ENST00000698202.1:c.535_539delinsTTGAA	ENSP00000513605.1:p.Leu179=
ENST00000698203.1:c.535_539delinsTTGAA	ENSP00000513606.1:p.Leu179=
ENST00000356853.10:c.535_539delinsTTGAA MANE Select	ENSP00000349313.5:p.Leu179=
ENST00000318673.6:c.*1657_*1661delinsTTGAA	ENSP00000320919.3:n.*1657_*1661delinsTTGA...
ENST00000356853.9:c.535_539delinsTTGAA	ENSP00000349313.5:p.Leu179=
ENST00000409720.5:c.535_539delinsTTGAA	ENSP00000387290.1:p.Leu179=
ENST00000418099.5:c.535_539delinsTTGAA	ENSP00000408966.1:p.Leu179=
ENST00000426304.5:c.295_299delinsTTGAA	ENSP00000394896.1:p.Leu99=
ENST00000450447.1:c.*222_*226delinsTTGAA	ENSP00000408421.1:n.*222_*226delinsTTGAA
ENST00000457600.2:c.535_539delinsTTGAA	ENSP00000407201.1:p.Leu179=
ENST00000498327.5:n.2723_2727delinsTTGAA
NM_024782.2:c.535_539delinsTTGAA , LRG_90t1:c.535_539delinsTTGAA	NP_079058.1:p.Leu179=
NM_001377498.1:c.535_539delinsTTGAA	NP_001364427.1:p.Leu179=
NM_001377499.1:c.535_539delinsTTGAA	NP_001364428.1:p.Leu179=
NM_024782.3:c.535_539delinsTTGAA MANE Select	NP_079058.1:p.Leu179=
NR_165304.1:n.631_635delinsTTGAA