Canonical Allele Identifier: CA1583225203

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575783_132575792delinsCAAGAAACAG , CM000667.2:g.132575783_132575792delinsCAAGAAACAG	GRCh38
NC_000005.9:g.131911475_131911484delinsCAAGAAACAG , CM000667.1:g.131911475_131911484delinsCAAGAAACAG	GRCh37
NC_000005.8:g.131939374_131939383delinsCAAGAAACAG	NCBI36
NG_021151.1:g.23860_23869delinsCAAGAAACAG
NG_021151.2:g.23807_23816delinsCAAGAAACAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.220_229delinsCAAGAAACAG MANE Select	ENSP00000368100.4:p.Gln74=
ENST00000638452.2:c.-78_-69delinsCAAGAAACAG	ENSP00000492349.2:n.-78_-69delinsCAAGAAAC...
ENST00000638504.1:n.297_306delinsCAAGAAACAG
ENST00000638568.2:c.-78_-69delinsCAAGAAACAG	ENSP00000491158.2:n.-78_-69delinsCAAGAAAC...
ENST00000639899.1:n.380_389delinsCAAGAAACAG
ENST00000640655.2:c.-78_-69delinsCAAGAAACAG	ENSP00000491596.2:n.-78_-69delinsCAAGAAAC...
ENST00000651160.1:c.220_229delinsCAAGAAACAG	ENSP00000498829.1:p.Gln74=
ENST00000651541.1:c.-78_-69delinsCAAGAAACAG	ENSP00000498795.1:n.-78_-69delinsCAAGAAAC...
ENST00000651658.1:n.288_297delinsCAAGAAACAG
ENST00000651723.1:c.*368_*377delinsCAAGAAACAG	ENSP00000498237.1:n.*368_*377delinsCAAGAA...
ENST00000652016.1:c.220_229delinsCAAGAAACAG	ENSP00000498267.1:p.Gln74=
ENST00000652485.1:c.220_229delinsCAAGAAACAG	ENSP00000498973.1:p.Gln74=
ENST00000378823.7:c.220_229delinsCAAGAAACAG	ENSP00000368100.4:p.Gln74=
ENST00000416135.5:c.-78_-69delinsCAAGAAACAG	ENSP00000389515.1:n.-78_-69delinsCAAGAAAC...
ENST00000423956.5:c.220_229delinsCAAGAAACAG	ENSP00000390971.1:p.Gln74=
ENST00000453394.5:c.220_229delinsCAAGAAACAG	ENSP00000400049.1:p.Gln74=
ENST00000533482.5:c.220_229delinsCAAGAAACAG	ENSP00000431225.1:p.Gln74=
NM_005732.3:c.220_229delinsCAAGAAACAG	NP_005723.2:p.Gln74=
NM_005732.4:c.220_229delinsCAAGAAACAG MANE Select	NP_005723.2:p.Gln74=