Canonical Allele Identifier: CA1583245898

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604019_132604022delinsCAAG , CM000667.2:g.132604019_132604022delinsCAAG	GRCh38
NC_000005.9:g.131939711_131939714delinsCAAG , CM000667.1:g.131939711_131939714delinsCAAG	GRCh37
NC_000005.8:g.131967610_131967613delinsCAAG	NCBI36
NG_021151.1:g.52096_52099delinsCAAG
NG_021151.2:g.52043_52046delinsCAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2497_2500delinsCAAG MANE Select	ENSP00000368100.4:p.Gln833=
ENST00000638452.2:c.2200_2203delinsCAAG	ENSP00000492349.2:p.Gln734=
ENST00000638504.1:n.2105_2108delinsCAAG
ENST00000638568.2:c.2200_2203delinsCAAG	ENSP00000491158.2:p.Gln734=
ENST00000639899.1:n.3016_3019delinsCAAG
ENST00000640655.2:c.2200_2203delinsCAAG	ENSP00000491596.2:p.Gln734=
ENST00000651160.1:c.*641_*644delinsCAAG	ENSP00000498829.1:n.*641_*644delinsCAAG
ENST00000651658.1:n.3040_3043delinsCAAG
ENST00000651723.1:c.*2580_*2583delinsCAAG	ENSP00000498237.1:n.*2580_*2583delinsCAAG...
ENST00000652016.1:c.*714_*717delinsCAAG	ENSP00000498267.1:n.*714_*717delinsCAAG
ENST00000652485.1:c.2530_2533delinsCAAG	ENSP00000498973.1:p.Gln844=
ENST00000378823.7:c.2497_2500delinsCAAG	ENSP00000368100.4:p.Gln833=
ENST00000423956.5:c.*683_*686delinsCAAG	ENSP00000390971.1:n.*683_*686delinsCAAG
ENST00000533482.5:c.*2123_*2126delinsCAAG	ENSP00000431225.1:n.*2123_*2126delinsCAAG...
NM_005732.3:c.2497_2500delinsCAAG	NP_005723.2:p.Gln833=
NM_005732.4:c.2497_2500delinsCAAG MANE Select	NP_005723.2:p.Gln833=