Canonical Allele Identifier: CA563057502

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1735704
• ClinVar RCV Id: RCV002355615
• dbSNP Id: rs1199799880
• gnomAD v2: 5-131924484-GAC-G
• gnomAD v4: 5-132588792-GAC-G
• MyVariant Identifiers: chr5:g.131924485_131924486del (hg19) ; chr5:g.132588793_132588794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588793_132588794del , CM000667.2:g.132588793_132588794del	GRCh38
NC_000005.9:g.131924485_131924486del , CM000667.1:g.131924485_131924486del	GRCh37
NC_000005.8:g.131952384_131952385del	NCBI36
NG_021151.1:g.36870_36871del
NG_021151.2:g.36817_36818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1158_1159del MANE Select	ENSP00000368100.4:p.Pro387IlefsTer3
ENST00000638452.2:c.861_862del	ENSP00000492349.2:p.Pro288IlefsTer3
ENST00000638504.1:n.844_845del
ENST00000638568.2:c.861_862del	ENSP00000491158.2:p.Pro288IlefsTer3
ENST00000639899.1:n.1677_1678del
ENST00000640655.2:c.861_862del	ENSP00000491596.2:p.Pro288IlefsTer3
ENST00000651160.1:c.1158_1159del	ENSP00000498829.1:p.Pro387IlefsTer3
ENST00000651541.1:c.861_862del	ENSP00000498795.1:p.Pro288IlefsTer3
ENST00000651658.1:n.1585_1586del
ENST00000651723.1:c.*1241_*1242del	ENSP00000498237.1:n.*1241_*1242del
ENST00000652016.1:c.1158_1159del	ENSP00000498267.1:p.Pro387IlefsTer3
ENST00000652485.1:c.1158_1159del	ENSP00000498973.1:p.Pro387IlefsTer3
ENST00000378823.7:c.1158_1159del	ENSP00000368100.4:p.Pro387IlefsTer3
ENST00000423956.5:c.1158_1159del	ENSP00000390971.1:p.Pro387IlefsTer3
ENST00000453394.5:c.1158_1159del	ENSP00000400049.1:p.Pro387IlefsTer3
ENST00000487596.1:n.724_725del
ENST00000533482.5:c.*784_*785del	ENSP00000431225.1:n.*784_*785del
NM_005732.3:c.1158_1159del	NP_005723.2:p.Pro387IlefsTer3
NM_005732.4:c.1158_1159del MANE Select	NP_005723.2:p.Pro387IlefsTer3