Canonical Allele Identifier: CA1583241874

Gene: RAD50

Linked Data

• dbSNP Id: rs1750765399
• gnomAD v4: 5-132595023-G-GGATTTTCATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595023_132595024insGATTTTCATTTT , CM000667.2:g.132595023_132595024insGATTTTCATTTT	GRCh38
NC_000005.9:g.131930715_131930716insGATTTTCATTTT , CM000667.1:g.131930715_131930716insGATTTTCATTTT	GRCh37
NC_000005.8:g.131958614_131958615insGATTTTCATTTT	NCBI36
NG_021151.1:g.43100_43101insGATTTTCATTTT
NG_021151.2:g.43047_43048insGATTTTCATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1948_1949insGATTTTCATTTT MANE Select	ENSP00000368100.4:p.Glu650GlyfsTer5
ENST00000638452.2:c.1651_1652insGATTTTCATTTT	ENSP00000492349.2:p.Glu551GlyfsTer5
ENST00000638504.1:n.1480-81_1480-80insGATTTTCATTTT
ENST00000638568.2:c.1651_1652insGATTTTCATTTT	ENSP00000491158.2:p.Glu551GlyfsTer5
ENST00000639899.1:n.2467_2468insGATTTTCATTTT
ENST00000640655.2:c.1651_1652insGATTTTCATTTT	ENSP00000491596.2:p.Glu551GlyfsTer5
ENST00000651160.1:c.*16-81_*16-80insGATTTTCATTTT	ENSP00000498829.1:n.*16-81_*16-80insGATTTTCATTTT
ENST00000651658.1:n.2491_2492insGATTTTCATTTT
ENST00000651723.1:c.*2031_*2032insGATTTTCATTTT	ENSP00000498237.1:n.*2031_*2032insGATTTTCATTTT
ENST00000652016.1:c.*89-81_*89-80insGATTTTCATTTT	ENSP00000498267.1:n.*89-81_*89-80insGATTTTCATTTT
ENST00000652485.1:c.1981_1982insGATTTTCATTTT	ENSP00000498973.1:p.Glu661GlyfsTer5
ENST00000378823.7:c.1948_1949insGATTTTCATTTT	ENSP00000368100.4:p.Glu650GlyfsTer5
ENST00000423956.5:c.*134_*135insGATTTTCATTTT	ENSP00000390971.1:n.*134_*135insGATTTTCATTTT
ENST00000453394.5:c.1765_1766insGATTTTCATTTT	ENSP00000400049.1:p.Glu589GlyfsTer5
ENST00000533482.5:c.*1574_*1575insGATTTTCATTTT	ENSP00000431225.1:n.*1574_*1575insGATTTTCATTTT
NM_005732.3:c.1948_1949insGATTTTCATTTT	NP_005723.2:p.Glu650GlyfsTer5
NM_005732.4:c.1948_1949insGATTTTCATTTT MANE Select	NP_005723.2:p.Glu650GlyfsTer5