Canonical Allele Identifier: CA16617474
Gene: NHEJ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424561
ClinVar RCV Id: RCV000483393
dbSNP Id: rs1064797042
MyVariant Identifiers: chr2:g.220022234del (hg19) chr2:g.219157512del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219157513del , CM000664.2:g.219157513del GRCh38
NC_000002.11:g.220022235del , CM000664.1:g.220022235del GRCh37
NC_000002.10:g.219730479del NCBI36
NG_007880.1:g.8354del , LRG_90:g.8354del

Transcript Alleles

HGVS Amino-acid change
ENST00000426304.6:c.350del ENSP00000394896.2:p.Phe117SerfsTer9
ENST00000457600.3:c.350del ENSP00000407201.2:p.Phe117SerfsTer9
ENST00000698174.1:c.350del ENSP00000513594.1:p.Phe117SerfsTer9
ENST00000698175.1:c.*97del ENSP00000513595.1:n.*97del
ENST00000698176.1:n.422del
ENST00000698202.1:c.350del ENSP00000513605.1:p.Phe117SerfsTer9
ENST00000698203.1:c.350del ENSP00000513606.1:p.Phe117SerfsTer9
ENST00000356853.10:c.350del MANE Select ENSP00000349313.5:p.Phe117SerfsTer9
ENST00000318673.6:c.*1472del ENSP00000320919.3:n.*1472del
ENST00000356853.9:c.350del ENSP00000349313.5:p.Phe117SerfsTer9
ENST00000409720.5:c.350del ENSP00000387290.1:p.Phe117SerfsTer9
ENST00000418099.5:c.350del ENSP00000408966.1:p.Phe117SerfsTer9
ENST00000426304.5:c.110del ENSP00000394896.1:p.Phe37SerfsTer9
ENST00000450447.1:c.*37del ENSP00000408421.1:n.*37del
ENST00000457600.2:c.350del ENSP00000407201.1:p.Phe117SerfsTer9
ENST00000498327.5:n.2538del
NM_024782.2:c.350del , LRG_90t1:c.350del NP_079058.1:p.Phe117SerfsTer9
NM_001377498.1:c.350del NP_001364427.1:p.Phe117SerfsTer9
NM_001377499.1:c.350del NP_001364428.1:p.Phe117SerfsTer9
NM_024782.3:c.350del MANE Select NP_079058.1:p.Phe117SerfsTer9
NR_165304.1:n.446del
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