Canonical Allele Identifier: CA2675215576

Gene: RAD50

Linked Data

• gnomAD v4: 5-132557008-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557011_132557012del , CM000667.2:g.132557011_132557012del	GRCh38
NC_000005.9:g.131892703_131892704del , CM000667.1:g.131892703_131892704del	GRCh37
NC_000005.8:g.131920602_131920603del	NCBI36
NG_021151.1:g.5088_5089del
NG_021151.2:g.5035_5036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-314_-313del MANE Select	ENSP00000368100.4:n.-314_-313del
ENST00000638452.2:c.-168-2273_-168-2272del	ENSP00000492349.2:n.-168-2273_-168-2272del
ENST00000638504.1:n.207-2273_207-2272del
ENST00000638568.2:c.-169+538_-169+539del	ENSP00000491158.2:n.-169+538_-169+539del
ENST00000639899.1:n.290-2273_290-2272del
ENST00000640655.2:c.-168-2273_-168-2272del	ENSP00000491596.2:n.-168-2273_-168-2272del
ENST00000651160.1:c.-314_-313del	ENSP00000498829.1:n.-314_-313del
ENST00000651541.1:c.-169+2_-169+3del
ENST00000652016.1:c.-314_-313del	ENSP00000498267.1:n.-314_-313del
ENST00000652485.1:c.-314_-313del	ENSP00000498973.1:n.-314_-313del
ENST00000378823.7:c.-314_-313del	ENSP00000368100.4:n.-314_-313del
ENST00000416135.5:c.-169+538_-169+539del	ENSP00000389515.1:n.-169+538_-169+539del
ENST00000533482.5:c.-314_-313del	ENSP00000431225.1:n.-314_-313del
NM_005732.3:c.-314_-313del	NP_005723.2:n.-314_-313del
NM_005732.4:c.-314_-313del MANE Select	NP_005723.2:n.-314_-313del