Canonical Allele Identifier: CA16617471
Gene: NHEJ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424201
ClinVar RCV Id: RCV000484868
dbSNP Id: rs1064796857

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219146732_219146735del , CM000664.2:g.219146732_219146735del GRCh38
NC_000002.11:g.220011454_220011457del , CM000664.1:g.220011454_220011457del GRCh37
NC_000002.10:g.219719698_219719701del NCBI36
NG_007880.1:g.19133_19136del , LRG_90:g.19133_19136del

Transcript Alleles

HGVS Amino-acid change
ENST00000426304.6:c.535_538del ENSP00000394896.2:p.Leu179ArgfsTer15
ENST00000457600.3:c.535_538del ENSP00000407201.2:p.Leu179ArgfsTer15
ENST00000698174.1:c.535_538del ENSP00000513594.1:p.Leu179ArgfsTer15
ENST00000698175.1:c.*282_*285del ENSP00000513595.1:n.*282_*285del
ENST00000698176.1:n.607_610del
ENST00000698202.1:c.535_538del ENSP00000513605.1:p.Leu179ArgfsTer15
ENST00000698203.1:c.535_538del ENSP00000513606.1:p.Leu179ArgfsTer15
ENST00000356853.10:c.535_538del MANE Select ENSP00000349313.5:p.Leu179ArgfsTer15
ENST00000318673.6:c.*1657_*1660del ENSP00000320919.3:n.*1657_*1660del
ENST00000356853.9:c.535_538del ENSP00000349313.5:p.Leu179ArgfsTer15
ENST00000409720.5:c.535_538del ENSP00000387290.1:p.Leu179ArgfsTer15
ENST00000418099.5:c.535_538del ENSP00000408966.1:p.Leu179ArgfsTer15
ENST00000426304.5:c.295_298del ENSP00000394896.1:p.Leu99ArgfsTer15
ENST00000450447.1:c.*222_*225del ENSP00000408421.1:n.*222_*225del
ENST00000457600.2:c.535_538del ENSP00000407201.1:p.Leu179ArgfsTer15
ENST00000498327.5:n.2723_2726del
NM_024782.2:c.535_538del , LRG_90t1:c.535_538del NP_079058.1:p.Leu179ArgfsTer15
NM_001377498.1:c.535_538del NP_001364427.1:p.Leu179ArgfsTer15
NM_001377499.1:c.535_538del NP_001364428.1:p.Leu179ArgfsTer15
NM_024782.3:c.535_538del MANE Select NP_079058.1:p.Leu179ArgfsTer15
NR_165304.1:n.631_634del