Canonical Allele Identifier: CA1583241821

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594924_132594925delinsAG , CM000667.2:g.132594924_132594925delinsAG	GRCh38
NC_000005.9:g.131930616_131930617delinsAG , CM000667.1:g.131930616_131930617delinsAG	GRCh37
NC_000005.8:g.131958515_131958516delinsAG	NCBI36
NG_021151.1:g.43001_43002delinsAG
NG_021151.2:g.42948_42949delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1849_1850delinsAG MANE Select	ENSP00000368100.4:p.Arg617=
ENST00000638452.2:c.1552_1553delinsAG	ENSP00000492349.2:p.Arg518=
ENST00000638504.1:n.1480-180_1480-179delinsAG
ENST00000638568.2:c.1552_1553delinsAG	ENSP00000491158.2:p.Arg518=
ENST00000639899.1:n.2368_2369delinsAG
ENST00000640655.2:c.1552_1553delinsAG	ENSP00000491596.2:p.Arg518=
ENST00000651160.1:c.*16-180_*16-179delinsAG	ENSP00000498829.1:n.*16-180_*16-179delinsAG
ENST00000651658.1:n.2392_2393delinsAG
ENST00000651723.1:c.*1932_*1933delinsAG	ENSP00000498237.1:n.*1932_*1933delinsAG
ENST00000652016.1:c.*89-180_*89-179delinsAG	ENSP00000498267.1:n.*89-180_*89-179delinsAG
ENST00000652485.1:c.1882_1883delinsAG	ENSP00000498973.1:p.Arg628=
ENST00000378823.7:c.1849_1850delinsAG	ENSP00000368100.4:p.Arg617=
ENST00000423956.5:c.*35_*36delinsAG	ENSP00000390971.1:n.*35_*36delinsAG
ENST00000453394.5:c.1666_1667delinsAG	ENSP00000400049.1:p.Arg556=
ENST00000533482.5:c.*1475_*1476delinsAG	ENSP00000431225.1:n.*1475_*1476delinsAG
NM_005732.3:c.1849_1850delinsAG	NP_005723.2:p.Arg617=
NM_005732.4:c.1849_1850delinsAG MANE Select	NP_005723.2:p.Arg617=