Canonical Allele Identifier: CA2675217824

Gene: RAD50

Linked Data

• gnomAD v4: 5-132609235-TTTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609239_132609242del , CM000667.2:g.132609239_132609242del	GRCh38
NC_000005.9:g.131944931_131944934del , CM000667.1:g.131944931_131944934del	GRCh37
NC_000005.8:g.131972830_131972833del	NCBI36
NG_021151.1:g.57316_57319del
NG_021151.2:g.57263_57266del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2922+30_2922+33del MANE Select	ENSP00000368100.4:n.2922+30_2922+33del
ENST00000638452.2:c.2625+30_2625+33del	ENSP00000492349.2:n.2625+30_2625+33del
ENST00000638504.1:n.2530+30_2530+33del
ENST00000638568.2:c.2625+30_2625+33del	ENSP00000491158.2:n.2625+30_2625+33del
ENST00000639899.1:n.3441+30_3441+33del
ENST00000640655.2:c.2625+30_2625+33del	ENSP00000491596.2:n.2625+30_2625+33del
ENST00000651160.1:c.*1066+30_*1066+33del	ENSP00000498829.1:n.*1066+30_*1066+33del
ENST00000651723.1:c.*3005+30_*3005+33del	ENSP00000498237.1:n.*3005+30_*3005+33del
ENST00000378823.7:c.2922+30_2922+33del	ENSP00000368100.4:n.2922+30_2922+33del
ENST00000423956.5:c.*1108+30_*1108+33del	ENSP00000390971.1:n.*1108+30_*1108+33del
ENST00000533482.5:c.*2548+30_*2548+33del	ENSP00000431225.1:n.*2548+30_*2548+33del
NM_005732.3:c.2922+30_2922+33del	NP_005723.2:n.2922+30_2922+33del
NM_005732.4:c.2922+30_2922+33del MANE Select	NP_005723.2:n.2922+30_2922+33del