Canonical Allele Identifier: CA2675216989

Gene: RAD50

Linked Data

• gnomAD v4: 5-132589579-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589580_132589582del , CM000667.2:g.132589580_132589582del	GRCh38
NC_000005.9:g.131925272_131925274del , CM000667.1:g.131925272_131925274del	GRCh37
NC_000005.8:g.131953171_131953173del	NCBI36
NG_021151.1:g.37657_37659del
NG_021151.2:g.37604_37606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1246-51_1246-49del MANE Select	ENSP00000368100.4:n.1246-51_1246-49del
ENST00000638452.2:c.949-51_949-49del	ENSP00000492349.2:n.949-51_949-49del
ENST00000638504.1:n.932-51_932-49del
ENST00000638568.2:c.949-51_949-49del	ENSP00000491158.2:n.949-51_949-49del
ENST00000639899.1:n.1765-51_1765-49del
ENST00000640655.2:c.949-51_949-49del	ENSP00000491596.2:n.949-51_949-49del
ENST00000651160.1:c.1246-51_1246-49del	ENSP00000498829.1:n.1246-51_1246-49del
ENST00000651541.1:c.949-51_949-49del	ENSP00000498795.1:n.949-51_949-49del
ENST00000651658.1:n.1673-51_1673-49del
ENST00000651723.1:c.*1329-51_*1329-49del	ENSP00000498237.1:n.*1329-51_*1329-49del
ENST00000652016.1:c.1246-51_1246-49del	ENSP00000498267.1:n.1246-51_1246-49del
ENST00000652485.1:c.1246-51_1246-49del	ENSP00000498973.1:n.1246-51_1246-49del
ENST00000378823.7:c.1246-51_1246-49del	ENSP00000368100.4:n.1246-51_1246-49del
ENST00000423956.5:c.1246-51_1246-49del	ENSP00000390971.1:n.1246-51_1246-49del
ENST00000453394.5:c.1246-51_1246-49del	ENSP00000400049.1:n.1246-51_1246-49del
ENST00000533482.5:c.*872-51_*872-49del	ENSP00000431225.1:n.*872-51_*872-49del
NM_005732.3:c.1246-51_1246-49del	NP_005723.2:n.1246-51_1246-49del
NM_005732.4:c.1246-51_1246-49del MANE Select	NP_005723.2:n.1246-51_1246-49del