Canonical Allele Identifier: CA2117029

Gene: NHEJ1

Linked Data

• dbSNP Id: rs758319750
• ExAC: 2:220022250 G / GCTC
• gnomAD v2: 2-220022250-G-GCTC
• gnomAD v4: 2-219157528-G-GCTC
• MyVariant Identifiers: chr2:g.220022250_220022251insCTC (hg19) ; chr2:g.219157528_219157529insCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219157529_219157531dup , CM000664.2:g.219157529_219157531dup	GRCh38
NC_000002.11:g.220022251_220022253dup , CM000664.1:g.220022251_220022253dup	GRCh37
NC_000002.10:g.219730495_219730497dup	NCBI36
NG_007880.1:g.8335_8337dup , LRG_90:g.8335_8337dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.331_333dup	ENSP00000394896.2:p.Glu111_Leu112insGlu
ENST00000457600.3:c.331_333dup	ENSP00000407201.2:p.Glu111_Leu112insGlu
ENST00000698174.1:c.331_333dup	ENSP00000513594.1:p.Glu111_Leu112insGlu
ENST00000698175.1:c.*78_*80dup	ENSP00000513595.1:n.*78_*80dup
ENST00000698176.1:n.403_405dup
ENST00000698202.1:c.331_333dup	ENSP00000513605.1:p.Glu111_Leu112insGlu
ENST00000698203.1:c.331_333dup	ENSP00000513606.1:p.Glu111_Leu112insGlu
ENST00000356853.10:c.331_333dup MANE Select	ENSP00000349313.5:p.Glu111_Leu112insGlu
ENST00000318673.6:c.*1453_*1455dup	ENSP00000320919.3:n.*1453_*1455dup
ENST00000356853.9:c.331_333dup	ENSP00000349313.5:p.Glu111_Leu112insGlu
ENST00000409720.5:c.331_333dup	ENSP00000387290.1:p.Glu111_Leu112insGlu
ENST00000418099.5:c.331_333dup	ENSP00000408966.1:p.Glu111_Leu112insGlu
ENST00000426304.5:c.91_93dup	ENSP00000394896.1:p.Glu31_Leu32insGlu
ENST00000450447.1:c.*18_*20dup	ENSP00000408421.1:n.*18_*20dup
ENST00000457600.2:c.331_333dup	ENSP00000407201.1:p.Glu111_Leu112insGlu
ENST00000498327.5:n.2519_2521dup
NM_024782.2:c.331_333dup , LRG_90t1:c.331_333dup	NP_079058.1:p.Glu111_Leu112insGlu
NM_001377498.1:c.331_333dup	NP_001364427.1:p.Glu111_Leu112insGlu
NM_001377499.1:c.331_333dup	NP_001364428.1:p.Glu111_Leu112insGlu
NM_024782.3:c.331_333dup MANE Select	NP_079058.1:p.Glu111_Leu112insGlu
NR_165304.1:n.427_429dup