Canonical Allele Identifier: CA916082770

Gene: RAD50

Linked Data

• ClinVar Variation Id: 858436
• ClinVar RCV Id: RCV001064311
• dbSNP Id: rs1751037826
• gnomAD v4: 5-132609146-TATTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609149_132609152del , CM000667.2:g.132609149_132609152del	GRCh38
NC_000005.9:g.131944841_131944844del , CM000667.1:g.131944841_131944844del	GRCh37
NC_000005.8:g.131972740_131972743del	NCBI36
NG_021151.1:g.57226_57229del
NG_021151.2:g.57173_57176del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2862_2865del MANE Select	ENSP00000368100.4:p.Ile954MetfsTer4
ENST00000638452.2:c.2565_2568del	ENSP00000492349.2:p.Ile855MetfsTer4
ENST00000638504.1:n.2470_2473del
ENST00000638568.2:c.2565_2568del	ENSP00000491158.2:p.Ile855MetfsTer4
ENST00000639899.1:n.3381_3384del
ENST00000640655.2:c.2565_2568del	ENSP00000491596.2:p.Ile855MetfsTer4
ENST00000651160.1:c.*1006_*1009del	ENSP00000498829.1:n.*1006_*1009del
ENST00000651723.1:c.*2945_*2948del	ENSP00000498237.1:n.*2945_*2948del
ENST00000378823.7:c.2862_2865del	ENSP00000368100.4:p.Ile954MetfsTer4
ENST00000423956.5:c.*1048_*1051del	ENSP00000390971.1:n.*1048_*1051del
ENST00000533482.5:c.*2488_*2491del	ENSP00000431225.1:n.*2488_*2491del
NM_005732.3:c.2862_2865del	NP_005723.2:p.Ile954MetfsTer4
NM_005732.4:c.2862_2865del MANE Select	NP_005723.2:p.Ile954MetfsTer4