Canonical Allele Identifier: CA2675217560

Gene: RAD50

Linked Data

• gnomAD v4: 5-132603928-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603931del , CM000667.2:g.132603931del	GRCh38
NC_000005.9:g.131939623del , CM000667.1:g.131939623del	GRCh37
NC_000005.8:g.131967522del	NCBI36
NG_021151.1:g.52008del
NG_021151.2:g.51955del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2409del MANE Select	ENSP00000368100.4:p.Asp804MetfsTer16
ENST00000638452.2:c.2112del	ENSP00000492349.2:p.Asp705MetfsTer16
ENST00000638504.1:n.2017del
ENST00000638568.2:c.2112del	ENSP00000491158.2:p.Asp705MetfsTer16
ENST00000639899.1:n.2928del
ENST00000640655.2:c.2112del	ENSP00000491596.2:p.Asp705MetfsTer16
ENST00000651160.1:c.*553del	ENSP00000498829.1:n.*553del
ENST00000651658.1:n.2952del
ENST00000651723.1:c.*2492del	ENSP00000498237.1:n.*2492del
ENST00000652016.1:c.*626del	ENSP00000498267.1:n.*626del
ENST00000652485.1:c.2442del	ENSP00000498973.1:p.Asp815MetfsTer16
ENST00000378823.7:c.2409del	ENSP00000368100.4:p.Asp804MetfsTer16
ENST00000423956.5:c.*595del	ENSP00000390971.1:n.*595del
ENST00000533482.5:c.*2035del	ENSP00000431225.1:n.*2035del
NM_005732.3:c.2409del	NP_005723.2:p.Asp804MetfsTer16
NM_005732.4:c.2409del MANE Select	NP_005723.2:p.Asp804MetfsTer16