Canonical Allele Identifier: CA65943201

Gene: NHEJ1

Linked Data

• MyVariant Identifiers: chr2:g.220022234_220022235insG (hg19) ; chr2:g.219157512_219157513insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219157512_219157513insG , CM000664.2:g.219157512_219157513insG	GRCh38
NC_000002.11:g.220022234_220022235insG , CM000664.1:g.220022234_220022235insG	GRCh37
NC_000002.10:g.219730478_219730479insG	NCBI36
NG_007880.1:g.8353_8354insC , LRG_90:g.8353_8354insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.349_350insC	ENSP00000394896.2:p.Phe117SerfsTer11
ENST00000457600.3:c.349_350insC	ENSP00000407201.2:p.Phe117SerfsTer11
ENST00000698174.1:c.349_350insC	ENSP00000513594.1:p.Phe117SerfsTer11
ENST00000698175.1:c.*96_*97insC	ENSP00000513595.1:n.*96_*97insC
ENST00000698176.1:n.421_422insC
ENST00000698202.1:c.349_350insC	ENSP00000513605.1:p.Phe117SerfsTer11
ENST00000698203.1:c.349_350insC	ENSP00000513606.1:p.Phe117SerfsTer11
ENST00000356853.10:c.349_350insC MANE Select	ENSP00000349313.5:p.Phe117SerfsTer11
ENST00000318673.6:c.*1471_*1472insC	ENSP00000320919.3:n.*1471_*1472insC
ENST00000356853.9:c.349_350insC	ENSP00000349313.5:p.Phe117SerfsTer11
ENST00000409720.5:c.349_350insC	ENSP00000387290.1:p.Phe117SerfsTer11
ENST00000418099.5:c.349_350insC	ENSP00000408966.1:p.Phe117SerfsTer11
ENST00000426304.5:c.109_110insC	ENSP00000394896.1:p.Phe37SerfsTer11
ENST00000450447.1:c.*36_*37insC	ENSP00000408421.1:n.*36_*37insC
ENST00000457600.2:c.349_350insC	ENSP00000407201.1:p.Phe117SerfsTer11
ENST00000498327.5:n.2537_2538insC
NM_024782.2:c.349_350insC , LRG_90t1:c.349_350insC	NP_079058.1:p.Phe117SerfsTer11
NM_001377498.1:c.349_350insC	NP_001364427.1:p.Phe117SerfsTer11
NM_001377499.1:c.349_350insC	NP_001364428.1:p.Phe117SerfsTer11
NM_024782.3:c.349_350insC MANE Select	NP_079058.1:p.Phe117SerfsTer11
NR_165304.1:n.445_446insC