Canonical Allele Identifier: CA2675217934

Gene: RAD50

Linked Data

• gnomAD v4: 5-132604987-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604993_132604994del , CM000667.2:g.132604993_132604994del	GRCh38
NC_000005.9:g.131940685_131940686del , CM000667.1:g.131940685_131940686del	GRCh37
NC_000005.8:g.131968584_131968585del	NCBI36
NG_021151.1:g.53070_53071del
NG_021151.2:g.53017_53018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2712_2713del MANE Select	ENSP00000368100.4:p.Glu904AspfsTer5
ENST00000638452.2:c.2415_2416del	ENSP00000492349.2:p.Glu805AspfsTer5
ENST00000638504.1:n.2320_2321del
ENST00000638568.2:c.2415_2416del	ENSP00000491158.2:p.Glu805AspfsTer5
ENST00000639899.1:n.3231_3232del
ENST00000640655.2:c.2415_2416del	ENSP00000491596.2:p.Glu805AspfsTer5
ENST00000651160.1:c.*856_*857del	ENSP00000498829.1:n.*856_*857del
ENST00000651723.1:c.*2795_*2796del	ENSP00000498237.1:n.*2795_*2796del
ENST00000652016.1:c.*929_*930del	ENSP00000498267.1:n.*929_*930del
ENST00000378823.7:c.2712_2713del	ENSP00000368100.4:p.Glu904AspfsTer5
ENST00000423956.5:c.*898_*899del	ENSP00000390971.1:n.*898_*899del
ENST00000533482.5:c.*2338_*2339del	ENSP00000431225.1:n.*2338_*2339del
NM_005732.3:c.2712_2713del	NP_005723.2:p.Glu904AspfsTer5
NM_005732.4:c.2712_2713del MANE Select	NP_005723.2:p.Glu904AspfsTer5