Canonical Allele Identifier: CA16617470

Gene: NHEJ1

Linked Data

• ClinVar Variation Id: 418719
• ClinVar RCV Id: RCV000485453
• dbSNP Id: rs1553548393
• MyVariant Identifiers: chr2:g.220011417_220011420dupTTCC (hg19) ; chr2:g.220011416_220011417insTTCC (hg19) ; chr2:g.219146695_219146698dupTTCC (hg38) ; chr2:g.219146694_219146695insTTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146695_219146698dup , CM000664.2:g.219146695_219146698dup	GRCh38
NC_000002.11:g.220011417_220011420dup , CM000664.1:g.220011417_220011420dup	GRCh37
NC_000002.10:g.219719661_219719664dup	NCBI36
NG_007880.1:g.19168_19171dup , LRG_90:g.19168_19171dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.570_573dup	ENSP00000394896.2:p.Gln192GlyfsTer16
ENST00000457600.3:c.570_573dup	ENSP00000407201.2:p.Gln192GlyfsTer16
ENST00000698174.1:c.570_573dup	ENSP00000513594.1:p.Gln192GlyfsTer16
ENST00000698175.1:c.*317_*320dup	ENSP00000513595.1:n.*317_*320dup
ENST00000698176.1:n.642_645dup
ENST00000698202.1:c.570_573dup	ENSP00000513605.1:p.Gln192GlyfsTer16
ENST00000698203.1:c.570_573dup	ENSP00000513606.1:p.Gln192GlyfsTer16
ENST00000356853.10:c.570_573dup MANE Select	ENSP00000349313.5:p.Gln192GlyfsTer16
ENST00000318673.6:c.*1692_*1695dup	ENSP00000320919.3:n.*1692_*1695dup
ENST00000356853.9:c.570_573dup	ENSP00000349313.5:p.Gln192GlyfsTer16
ENST00000409720.5:c.570_573dup	ENSP00000387290.1:p.Gln192GlyfsTer16
ENST00000418099.5:c.570_573dup	ENSP00000408966.1:p.Gln192GlyfsTer22
ENST00000426304.5:c.330_333dup	ENSP00000394896.1:p.Gln112GlyfsTer16
ENST00000457600.2:c.570_573dup	ENSP00000407201.1:p.Gln192GlyfsTer16
ENST00000498327.5:n.2758_2761dup
NM_024782.2:c.570_573dup , LRG_90t1:c.570_573dup	NP_079058.1:p.Gln192GlyfsTer16
NM_001377498.1:c.570_573dup	NP_001364427.1:p.Gln192GlyfsTer16
NM_001377499.1:c.570_573dup	NP_001364428.1:p.Gln192GlyfsTer16
NM_024782.3:c.570_573dup MANE Select	NP_079058.1:p.Gln192GlyfsTer16
NR_165304.1:n.666_669dup