Canonical Allele Identifier: CA563057566

Gene: RAD50

Linked Data

• dbSNP Id: rs1448363418
• gnomAD v2: 5-131930716-A-ATTTTCATTTT
• MyVariant Identifiers: chr5:g.131930716_131930717insTTTTCATTTT (hg19) ; chr5:g.132595024_132595025insTTTTCATTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595024_132595025insTTTTCATTTT , CM000667.2:g.132595024_132595025insTTTTCATTTT	GRCh38
NC_000005.9:g.131930716_131930717insTTTTCATTTT , CM000667.1:g.131930716_131930717insTTTTCATTTT	GRCh37
NC_000005.8:g.131958615_131958616insTTTTCATTTT	NCBI36
NG_021151.1:g.43101_43102insTTTTCATTTT
NG_021151.2:g.43048_43049insTTTTCATTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1949_1950insTTTTCATTTT MANE Select	ENSP00000368100.4:p.Glu650AspfsTer?
ENST00000638452.2:c.1652_1653insTTTTCATTTT	ENSP00000492349.2:p.Glu551AspfsTer?
ENST00000638504.1:n.1480-80_1480-79insTTTTCATTTT
ENST00000638568.2:c.1652_1653insTTTTCATTTT	ENSP00000491158.2:p.Glu551AspfsTer?
ENST00000639899.1:n.2468_2469insTTTTCATTTT
ENST00000640655.2:c.1652_1653insTTTTCATTTT	ENSP00000491596.2:p.Glu551AspfsTer?
ENST00000651160.1:c.*16-80_*16-79insTTTTCATTTT	ENSP00000498829.1:n.*16-80_*16-79insTTTTCATTTT
ENST00000651658.1:n.2492_2493insTTTTCATTTT
ENST00000651723.1:c.*2032_*2033insTTTTCATTTT	ENSP00000498237.1:n.*2032_*2033insTTTTCATTTT
ENST00000652016.1:c.*89-80_*89-79insTTTTCATTTT	ENSP00000498267.1:n.*89-80_*89-79insTTTTCATTTT
ENST00000652485.1:c.1982_1983insTTTTCATTTT	ENSP00000498973.1:p.Glu661AspfsTer?
ENST00000378823.7:c.1949_1950insTTTTCATTTT	ENSP00000368100.4:p.Glu650AspfsTer?
ENST00000423956.5:c.*135_*136insTTTTCATTTT	ENSP00000390971.1:n.*135_*136insTTTTCATTTT
ENST00000453394.5:c.1766_1767insTTTTCATTTT	ENSP00000400049.1:p.Glu589AspfsTer?
ENST00000533482.5:c.*1575_*1576insTTTTCATTTT	ENSP00000431225.1:n.*1575_*1576insTTTTCATTTT
NM_005732.3:c.1949_1950insTTTTCATTTT	NP_005723.2:p.Glu650AspfsTer?
NM_005732.4:c.1949_1950insTTTTCATTTT MANE Select	NP_005723.2:p.Glu650AspfsTer?