Canonical Allele Identifier: CA1042498882

Gene: NHEJ1

Linked Data

• dbSNP Id: rs1949748000
• gnomAD v3: 2-219147055-C-CCATG
• gnomAD v4: 2-219147055-C-CCATG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219147055_219147056insCATG , CM000664.2:g.219147055_219147056insCATG	GRCh38
NC_000002.11:g.220011777_220011778insCATG , CM000664.1:g.220011777_220011778insCATG	GRCh37
NC_000002.10:g.219720021_219720022insCATG	NCBI36
NG_007880.1:g.18810_18811insCATG , LRG_90:g.18810_18811insCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.530-318_530-317insCATG	ENSP00000394896.2:n.530-318_530-317insCATG
ENST00000457600.3:c.530-318_530-317insCATG	ENSP00000407201.2:n.530-318_530-317insCATG
ENST00000698174.1:c.530-318_530-317insCATG	ENSP00000513594.1:n.530-318_530-317insCATG
ENST00000698175.1:c.*277-318_*277-317insCATG	ENSP00000513595.1:n.*277-318_*277-317insCATG
ENST00000698176.1:n.602-318_602-317insCATG
ENST00000698202.1:c.530-318_530-317insCATG	ENSP00000513605.1:n.530-318_530-317insCATG
ENST00000698203.1:c.530-318_530-317insCATG	ENSP00000513606.1:n.530-318_530-317insCATG
ENST00000356853.10:c.530-318_530-317insCATG MANE Select	ENSP00000349313.5:n.530-318_530-317insCATG
ENST00000318673.6:c.*1652-318_*1652-317insCATG	ENSP00000320919.3:n.*1652-318_*1652-317insCATG
ENST00000356853.9:c.530-318_530-317insCATG	ENSP00000349313.5:n.530-318_530-317insCATG
ENST00000409720.5:c.530-318_530-317insCATG	ENSP00000387290.1:n.530-318_530-317insCATG
ENST00000418099.5:c.530-318_530-317insCATG	ENSP00000408966.1:n.530-318_530-317insCATG
ENST00000426304.5:c.290-318_290-317insCATG	ENSP00000394896.1:n.290-318_290-317insCATG
ENST00000450447.1:c.*217-318_*217-317insCATG	ENSP00000408421.1:n.*217-318_*217-317insCATG
ENST00000457600.2:c.530-318_530-317insCATG	ENSP00000407201.1:n.530-318_530-317insCATG
ENST00000498327.5:n.2718-318_2718-317insCATG
NM_024782.2:c.530-318_530-317insCATG , LRG_90t1:c.530-318_530-317insCATG	NP_079058.1:n.530-318_530-317insCATG
NM_001377498.1:c.530-318_530-317insCATG	NP_001364427.1:n.530-318_530-317insCATG
NM_001377499.1:c.530-318_530-317insCATG	NP_001364428.1:n.530-318_530-317insCATG
NM_024782.3:c.530-318_530-317insCATG MANE Select	NP_079058.1:n.530-318_530-317insCATG
NR_165304.1:n.626-318_626-317insCATG