Canonical Allele Identifier: CA2663196894

Gene: NHEJ1

Linked Data

• gnomAD v4: 2-219146680-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146681del , CM000664.2:g.219146681del	GRCh38
NC_000002.11:g.220011403del , CM000664.1:g.220011403del	GRCh37
NC_000002.10:g.219719647del	NCBI36
NG_007880.1:g.19185del , LRG_90:g.19185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.587del	ENSP00000394896.2:p.Glu196GlyfsTer17
ENST00000457600.3:c.587del	ENSP00000407201.2:p.Glu196GlyfsTer17
ENST00000698174.1:c.587del	ENSP00000513594.1:p.Glu196GlyfsTer17
ENST00000698175.1:c.*334del	ENSP00000513595.1:n.*334del
ENST00000698176.1:n.659del
ENST00000698202.1:c.587del	ENSP00000513605.1:p.Glu196GlyfsTer17
ENST00000698203.1:c.587del	ENSP00000513606.1:p.Glu196GlyfsTer17
ENST00000356853.10:c.587del MANE Select	ENSP00000349313.5:p.Glu196GlyfsTer17
ENST00000318673.6:c.*1709del	ENSP00000320919.3:n.*1709del
ENST00000356853.9:c.587del	ENSP00000349313.5:p.Glu196GlyfsTer17
ENST00000409720.5:c.587del	ENSP00000387290.1:p.Glu196GlyfsTer17
ENST00000418099.5:c.587del	ENSP00000408966.1:p.Glu196GlyfsTer2
ENST00000426304.5:c.347del	ENSP00000394896.1:p.Glu116GlyfsTer17
ENST00000457600.2:c.587del	ENSP00000407201.1:p.Glu196GlyfsTer17
ENST00000498327.5:n.2775del
NM_024782.2:c.587del , LRG_90t1:c.587del	NP_079058.1:p.Glu196GlyfsTer17
NM_001377498.1:c.587del	NP_001364427.1:p.Glu196GlyfsTer17
NM_001377499.1:c.587del	NP_001364428.1:p.Glu196GlyfsTer17
NM_024782.3:c.587del MANE Select	NP_079058.1:p.Glu196GlyfsTer17
NR_165304.1:n.683del