Canonical Allele Identifier: CA1329079838
Gene: NHEJ1 HGNC NCBI

Linked Data

dbSNP Id: rs1949742990

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219146568_219146569del , CM000664.2:g.219146568_219146569del GRCh38
NC_000002.11:g.220011290_220011291del , CM000664.1:g.220011290_220011291del GRCh37
NC_000002.10:g.219719534_219719535del NCBI36
NG_007880.1:g.19298_19299del , LRG_90:g.19298_19299del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426304.6:c.588+112_588+113del ENSP00000394896.2:n.588+112_588+113del
ENST00000457600.3:c.588+112_588+113del ENSP00000407201.2:n.588+112_588+113del
ENST00000698174.1:c.588+112_588+113del ENSP00000513594.1:n.588+112_588+113del
ENST00000698175.1:c.*335+112_*335+113del ENSP00000513595.1:n.*335+112_*335+113del
ENST00000698176.1:n.660+112_660+113del
ENST00000698202.1:c.588+112_588+113del ENSP00000513605.1:n.588+112_588+113del
ENST00000698203.1:c.588+112_588+113del ENSP00000513606.1:n.588+112_588+113del
ENST00000356853.10:c.588+112_588+113del MANE Select ENSP00000349313.5:n.588+112_588+113del
ENST00000318673.6:c.*1710+112_*1710+113del ENSP00000320919.3:n.*1710+112_*1710+113del
ENST00000356853.9:c.588+112_588+113del ENSP00000349313.5:n.588+112_588+113del
ENST00000409720.5:c.588+112_588+113del ENSP00000387290.1:n.588+112_588+113del
ENST00000418099.5:c.588+112_588+113del ENSP00000408966.1:n.588+112_588+113del
ENST00000426304.5:c.348+112_348+113del ENSP00000394896.1:n.348+112_348+113del
ENST00000457600.2:c.588+112_588+113del ENSP00000407201.1:n.588+112_588+113del
ENST00000498327.5:n.2776+112_2776+113del
NM_024782.2:c.588+112_588+113del , LRG_90t1:c.588+112_588+113del NP_079058.1:n.588+112_588+113del
NM_001377498.1:c.588+112_588+113del NP_001364427.1:n.588+112_588+113del
NM_001377499.1:c.588+112_588+113del NP_001364428.1:n.588+112_588+113del
NM_024782.3:c.588+112_588+113del MANE Select NP_079058.1:n.588+112_588+113del
NR_165304.1:n.684+112_684+113del