Canonical Allele Identifier: CA2675216859

Gene: RAD50

Linked Data

• gnomAD v4: 5-132588863-ACTGCCAACCAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588864_132588875del , CM000667.2:g.132588864_132588875del	GRCh38
NC_000005.9:g.131924556_131924567del , CM000667.1:g.131924556_131924567del	GRCh37
NC_000005.8:g.131952455_131952466del	NCBI36
NG_021151.1:g.36941_36952del
NG_021151.2:g.36888_36899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1229_1240del MANE Select	ENSP00000368100.4:p.Thr410_Leu414delinsMet
ENST00000638452.2:c.932_943del	ENSP00000492349.2:p.Thr311_Leu315delinsMet
ENST00000638504.1:n.915_926del
ENST00000638568.2:c.932_943del	ENSP00000491158.2:p.Thr311_Leu315delinsMet
ENST00000639899.1:n.1748_1759del
ENST00000640655.2:c.932_943del	ENSP00000491596.2:p.Thr311_Leu315delinsMet
ENST00000651160.1:c.1229_1240del	ENSP00000498829.1:p.Thr410_Leu414delinsMet
ENST00000651541.1:c.932_943del	ENSP00000498795.1:p.Thr311_Leu315delinsMet
ENST00000651658.1:n.1656_1667del
ENST00000651723.1:c.*1312_*1323del	ENSP00000498237.1:n.*1312_*1323del
ENST00000652016.1:c.1229_1240del	ENSP00000498267.1:p.Thr410_Leu414delinsMet
ENST00000652485.1:c.1229_1240del	ENSP00000498973.1:p.Thr410_Leu414delinsMet
ENST00000378823.7:c.1229_1240del	ENSP00000368100.4:p.Thr410_Leu414delinsMet
ENST00000423956.5:c.1229_1240del	ENSP00000390971.1:p.Thr410_Leu414delinsMet
ENST00000453394.5:c.1229_1240del	ENSP00000400049.1:p.Thr410_Leu414delinsMet
ENST00000533482.5:c.*855_*866del	ENSP00000431225.1:n.*855_*866del
NM_005732.3:c.1229_1240del	NP_005723.2:p.Thr410_Leu414delinsMet
NM_005732.4:c.1229_1240del MANE Select	NP_005723.2:p.Thr410_Leu414delinsMet