Canonical Allele Identifier: CA563057558

Gene: RAD50

Linked Data

• ClinVar Variation Id: 583018
• ClinVar RCV Id: RCV000707239
• dbSNP Id: rs1561642039
• gnomAD v2: 5-131930612-AAAAAG-A
• gnomAD v4: 5-132594920-AAAAAG-A
• MyVariant Identifiers: chr5:g.131930616_131930620del (hg19) ; chr5:g.131930613_131930617del (hg19) ; chr5:g.132594924_132594928del (hg38) ; chr5:g.132594921_132594925del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594924_132594928del , CM000667.2:g.132594924_132594928del	GRCh38
NC_000005.9:g.131930616_131930620del , CM000667.1:g.131930616_131930620del	GRCh37
NC_000005.8:g.131958515_131958519del	NCBI36
NG_021151.1:g.43001_43005del
NG_021151.2:g.42948_42952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1849_1853del MANE Select	ENSP00000368100.4:p.Arg617GlyfsTer13
ENST00000638452.2:c.1552_1556del	ENSP00000492349.2:p.Arg518GlyfsTer13
ENST00000638504.1:n.1480-180_1480-176del
ENST00000638568.2:c.1552_1556del	ENSP00000491158.2:p.Arg518GlyfsTer13
ENST00000639899.1:n.2368_2372del
ENST00000640655.2:c.1552_1556del	ENSP00000491596.2:p.Arg518GlyfsTer13
ENST00000651160.1:c.*16-180_*16-176del	ENSP00000498829.1:n.*16-180_*16-176del
ENST00000651658.1:n.2392_2396del
ENST00000651723.1:c.*1932_*1936del	ENSP00000498237.1:n.*1932_*1936del
ENST00000652016.1:c.*89-180_*89-176del	ENSP00000498267.1:n.*89-180_*89-176del
ENST00000652485.1:c.1882_1886del	ENSP00000498973.1:p.Arg628GlyfsTer13
ENST00000378823.7:c.1849_1853del	ENSP00000368100.4:p.Arg617GlyfsTer13
ENST00000423956.5:c.*35_*39del	ENSP00000390971.1:n.*35_*39del
ENST00000453394.5:c.1666_1670del	ENSP00000400049.1:p.Arg556GlyfsTer13
ENST00000533482.5:c.*1475_*1479del	ENSP00000431225.1:n.*1475_*1479del
NM_005732.3:c.1849_1853del	NP_005723.2:p.Arg617GlyfsTer13
NM_005732.4:c.1849_1853del MANE Select	NP_005723.2:p.Arg617GlyfsTer13