Canonical Allele Identifier: CA2675216196

Gene: RAD50

Linked Data

• gnomAD v4: 5-132575977-GGTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575980_132575983del , CM000667.2:g.132575980_132575983del	GRCh38
NC_000005.9:g.131911672_131911675del , CM000667.1:g.131911672_131911675del	GRCh37
NC_000005.8:g.131939571_131939574del	NCBI36
NG_021151.1:g.24057_24060del
NG_021151.2:g.24004_24007del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.365+52_365+55del MANE Select	ENSP00000368100.4:n.365+52_365+55del
ENST00000638452.2:c.68+52_68+55del	ENSP00000492349.2:n.68+52_68+55del
ENST00000638504.1:n.442+52_442+55del
ENST00000638568.2:c.68+52_68+55del	ENSP00000491158.2:n.68+52_68+55del
ENST00000639899.1:n.525+52_525+55del
ENST00000640655.2:c.68+52_68+55del	ENSP00000491596.2:n.68+52_68+55del
ENST00000651160.1:c.365+52_365+55del	ENSP00000498829.1:n.365+52_365+55del
ENST00000651541.1:c.68+52_68+55del	ENSP00000498795.1:n.68+52_68+55del
ENST00000651658.1:n.433+52_433+55del
ENST00000651723.1:c.*448+117_*448+120del	ENSP00000498237.1:n.*448+117_*448+120del
ENST00000652016.1:c.365+52_365+55del	ENSP00000498267.1:n.365+52_365+55del
ENST00000652485.1:c.365+52_365+55del	ENSP00000498973.1:n.365+52_365+55del
ENST00000378823.7:c.365+52_365+55del	ENSP00000368100.4:n.365+52_365+55del
ENST00000416135.5:c.68+52_68+55del	ENSP00000389515.1:n.68+52_68+55del
ENST00000423956.5:c.365+52_365+55del	ENSP00000390971.1:n.365+52_365+55del
ENST00000453394.5:c.365+52_365+55del	ENSP00000400049.1:n.365+52_365+55del
ENST00000533482.5:c.300+117_300+120del	ENSP00000431225.1:n.300+117_300+120del
NM_005732.3:c.365+52_365+55del	NP_005723.2:n.365+52_365+55del
NM_005732.4:c.365+52_365+55del MANE Select	NP_005723.2:n.365+52_365+55del