Canonical Allele Identifier: CA1583241889

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595054_132595059delinsCTACTT , CM000667.2:g.132595054_132595059delinsCTACTT	GRCh38
NC_000005.9:g.131930746_131930751delinsCTACTT , CM000667.1:g.131930746_131930751delinsCTACTT	GRCh37
NC_000005.8:g.131958645_131958650delinsCTACTT	NCBI36
NG_021151.1:g.43131_43136delinsCTACTT
NG_021151.2:g.43078_43083delinsCTACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1969+10_1969+15delinsCTACTT MANE Select	ENSP00000368100.4:n.1969+10_1969+15delinsCTACTT
ENST00000638452.2:c.1672+10_1672+15delinsCTACTT	ENSP00000492349.2:n.1672+10_1672+15delinsCTACTT
ENST00000638504.1:n.1480-50_1480-45delinsCTACTT
ENST00000638568.2:c.1672+10_1672+15delinsCTACTT	ENSP00000491158.2:n.1672+10_1672+15delinsCTACTT
ENST00000639899.1:n.2488+10_2488+15delinsCTACTT
ENST00000640655.2:c.1672+10_1672+15delinsCTACTT	ENSP00000491596.2:n.1672+10_1672+15delinsCTACTT
ENST00000651160.1:c.*16-50_*16-45delinsCTACTT	ENSP00000498829.1:n.*16-50_*16-45delinsCTACTT
ENST00000651658.1:n.2512+10_2512+15delinsCTACTT
ENST00000651723.1:c.*2052+10_*2052+15delinsCTACTT	ENSP00000498237.1:n.*2052+10_*2052+15delinsCTACTT
ENST00000652016.1:c.*89-50_*89-45delinsCTACTT	ENSP00000498267.1:n.*89-50_*89-45delinsCTACTT
ENST00000652485.1:c.2002+10_2002+15delinsCTACTT	ENSP00000498973.1:n.2002+10_2002+15delinsCTACTT
ENST00000378823.7:c.1969+10_1969+15delinsCTACTT	ENSP00000368100.4:n.1969+10_1969+15delinsCTACTT
ENST00000423956.5:c.*155+10_*155+15delinsCTACTT	ENSP00000390971.1:n.*155+10_*155+15delinsCTACTT
ENST00000453394.5:c.1786+10_1786+15delinsCTACTT	ENSP00000400049.1:n.1786+10_1786+15delinsCTACTT
ENST00000533482.5:c.*1595+10_*1595+15delinsCTACTT	ENSP00000431225.1:n.*1595+10_*1595+15delinsCTACTT
NM_005732.3:c.1969+10_1969+15delinsCTACTT	NP_005723.2:n.1969+10_1969+15delinsCTACTT
NM_005732.4:c.1969+10_1969+15delinsCTACTT MANE Select	NP_005723.2:n.1969+10_1969+15delinsCTACTT