Canonical Allele Identifier: CA1081658698

Gene: RAD50

Linked Data

• dbSNP Id: rs1750959101
• gnomAD v3: 5-132604985-TAC-T
• gnomAD v4: 5-132604985-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604987_132604988del , CM000667.2:g.132604987_132604988del	GRCh38
NC_000005.9:g.131940679_131940680del , CM000667.1:g.131940679_131940680del	GRCh37
NC_000005.8:g.131968578_131968579del	NCBI36
NG_021151.1:g.53064_53065del
NG_021151.2:g.53011_53012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2706_2707del MANE Select	ENSP00000368100.4:p.Tyr902Ter
ENST00000638452.2:c.2409_2410del	ENSP00000492349.2:p.Tyr803Ter
ENST00000638504.1:n.2314_2315del
ENST00000638568.2:c.2409_2410del	ENSP00000491158.2:p.Tyr803Ter
ENST00000639899.1:n.3225_3226del
ENST00000640655.2:c.2409_2410del	ENSP00000491596.2:p.Tyr803Ter
ENST00000651160.1:c.*850_*851del	ENSP00000498829.1:n.*850_*851del
ENST00000651723.1:c.*2789_*2790del	ENSP00000498237.1:n.*2789_*2790del
ENST00000652016.1:c.*923_*924del	ENSP00000498267.1:n.*923_*924del
ENST00000378823.7:c.2706_2707del	ENSP00000368100.4:p.Tyr902Ter
ENST00000423956.5:c.*892_*893del	ENSP00000390971.1:n.*892_*893del
ENST00000533482.5:c.*2332_*2333del	ENSP00000431225.1:n.*2332_*2333del
NM_005732.3:c.2706_2707del	NP_005723.2:p.Tyr902Ter
NM_005732.4:c.2706_2707del MANE Select	NP_005723.2:p.Tyr902Ter