Canonical Allele Identifier: CA539623549

Gene: NHEJ1

Linked Data

• dbSNP Id: rs1184851279
• gnomAD v2: 2-220021931-G-GGTTGT
• gnomAD v3: 2-219157209-G-GGTTGT
• gnomAD v4: 2-219157209-G-GGTTGT
• MyVariant Identifiers: chr2:g.220021931_220021932insGTTGT (hg19) ; chr2:g.219157209_219157210insGTTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219157209_219157210insGTTGT , CM000664.2:g.219157209_219157210insGTTGT	GRCh38
NC_000002.11:g.220021931_220021932insGTTGT , CM000664.1:g.220021931_220021932insGTTGT	GRCh37
NC_000002.10:g.219730175_219730176insGTTGT	NCBI36
NG_007880.1:g.8656_8657insACAAC , LRG_90:g.8656_8657insACAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.390+262_390+263insACAAC	ENSP00000394896.2:n.390+262_390+263insACAAC
ENST00000457600.3:c.390+262_390+263insACAAC	ENSP00000407201.2:n.390+262_390+263insACAAC
ENST00000698174.1:c.390+262_390+263insACAAC	ENSP00000513594.1:n.390+262_390+263insACAAC
ENST00000698175.1:c.*137+262_*137+263insACAAC	ENSP00000513595.1:n.*137+262_*137+263insACAAC
ENST00000698176.1:n.462+262_462+263insACAAC
ENST00000698202.1:c.390+262_390+263insACAAC	ENSP00000513605.1:n.390+262_390+263insACAAC
ENST00000698203.1:c.390+262_390+263insACAAC	ENSP00000513606.1:n.390+262_390+263insACAAC
ENST00000356853.10:c.390+262_390+263insACAAC MANE Select	ENSP00000349313.5:n.390+262_390+263insACAAC
ENST00000318673.6:c.*1512+262_*1512+263insACAAC	ENSP00000320919.3:n.*1512+262_*1512+263insACAAC
ENST00000356853.9:c.390+262_390+263insACAAC	ENSP00000349313.5:n.390+262_390+263insACAAC
ENST00000409720.5:c.390+262_390+263insACAAC	ENSP00000387290.1:n.390+262_390+263insACAAC
ENST00000418099.5:c.390+262_390+263insACAAC	ENSP00000408966.1:n.390+262_390+263insACAAC
ENST00000426304.5:c.150+262_150+263insACAAC	ENSP00000394896.1:n.150+262_150+263insACAAC
ENST00000450447.1:c.*77+262_*77+263insACAAC	ENSP00000408421.1:n.*77+262_*77+263insACAAC
ENST00000457600.2:c.390+262_390+263insACAAC	ENSP00000407201.1:n.390+262_390+263insACAAC
ENST00000498327.5:n.2578+262_2578+263insACAAC
NM_024782.2:c.390+262_390+263insACAAC , LRG_90t1:c.390+262_390+263insACAAC	NP_079058.1:n.390+262_390+263insACAAC
NM_001377498.1:c.390+262_390+263insACAAC	NP_001364427.1:n.390+262_390+263insACAAC
NM_001377499.1:c.390+262_390+263insACAAC	NP_001364428.1:n.390+262_390+263insACAAC
NM_024782.3:c.390+262_390+263insACAAC MANE Select	NP_079058.1:n.390+262_390+263insACAAC
NR_165304.1:n.486+262_486+263insACAAC