Canonical Allele Identifier: CA2499217584

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1107413
• ClinVar RCV Id: RCV001432524
• dbSNP Id: rs2149849803

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609262_132609278del , CM000667.2:g.132609262_132609278del	GRCh38
NC_000005.9:g.131944954_131944970del , CM000667.1:g.131944954_131944970del	GRCh37
NC_000005.8:g.131972853_131972869del	NCBI36
NG_021151.1:g.57339_57355del
NG_021151.2:g.57286_57302del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2923-21_2923-5del MANE Select	ENSP00000368100.4:n.2923-21_2923-5del
ENST00000638452.2:c.2626-21_2626-5del	ENSP00000492349.2:n.2626-21_2626-5del
ENST00000638504.1:n.2531-21_2531-5del
ENST00000638568.2:c.2626-21_2626-5del	ENSP00000491158.2:n.2626-21_2626-5del
ENST00000639899.1:n.3442-21_3442-5del
ENST00000640655.2:c.2626-21_2626-5del	ENSP00000491596.2:n.2626-21_2626-5del
ENST00000651160.1:c.*1067-21_*1067-5del	ENSP00000498829.1:n.*1067-21_*1067-5del
ENST00000651723.1:c.*3006-21_*3006-5del	ENSP00000498237.1:n.*3006-21_*3006-5del
ENST00000378823.7:c.2923-21_2923-5del	ENSP00000368100.4:n.2923-21_2923-5del
ENST00000423956.5:c.*1109-21_*1109-5del	ENSP00000390971.1:n.*1109-21_*1109-5del
ENST00000533482.5:c.*2549-21_*2549-5del	ENSP00000431225.1:n.*2549-21_*2549-5del
NM_005732.3:c.2923-21_2923-5del	NP_005723.2:n.2923-21_2923-5del
NM_005732.4:c.2923-21_2923-5del MANE Select	NP_005723.2:n.2923-21_2923-5del