Canonical Allele Identifier: CA2586971304

Gene: NHEJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146687dup , CM000664.2:g.219146687dup	GRCh38
NC_000002.11:g.220011409dup , CM000664.1:g.220011409dup	GRCh37
NC_000002.10:g.219719653dup	NCBI36
NG_007880.1:g.19179dup , LRG_90:g.19179dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.581dup	ENSP00000394896.2:p.Met194IlefsTer13
ENST00000457600.3:c.581dup	ENSP00000407201.2:p.Met194IlefsTer13
ENST00000698174.1:c.581dup	ENSP00000513594.1:p.Met194IlefsTer13
ENST00000698175.1:c.*328dup	ENSP00000513595.1:n.*328dup
ENST00000698176.1:n.653dup
ENST00000698202.1:c.581dup	ENSP00000513605.1:p.Met194IlefsTer13
ENST00000698203.1:c.581dup	ENSP00000513606.1:p.Met194IlefsTer13
ENST00000356853.10:c.581dup MANE Select	ENSP00000349313.5:p.Met194IlefsTer13
ENST00000318673.6:c.*1703dup	ENSP00000320919.3:n.*1703dup
ENST00000356853.9:c.581dup	ENSP00000349313.5:p.Met194IlefsTer13
ENST00000409720.5:c.581dup	ENSP00000387290.1:p.Met194IlefsTer13
ENST00000418099.5:c.581dup	ENSP00000408966.1:p.Met194IlefsTer19
ENST00000426304.5:c.341dup	ENSP00000394896.1:p.Met114IlefsTer13
ENST00000457600.2:c.581dup	ENSP00000407201.1:p.Met194IlefsTer13
ENST00000498327.5:n.2769dup
NM_024782.2:c.581dup , LRG_90t1:c.581dup	NP_079058.1:p.Met194IlefsTer13
NM_001377498.1:c.581dup	NP_001364427.1:p.Met194IlefsTer13
NM_001377499.1:c.581dup	NP_001364428.1:p.Met194IlefsTer13
NM_024782.3:c.581dup MANE Select	NP_079058.1:p.Met194IlefsTer13
NR_165304.1:n.677dup