Canonical Allele Identifier: CA1583241817

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594920_132594925delinsAAAAAG , CM000667.2:g.132594920_132594925delinsAAAAAG	GRCh38
NC_000005.9:g.131930612_131930617delinsAAAAAG , CM000667.1:g.131930612_131930617delinsAAAAAG	GRCh37
NC_000005.8:g.131958511_131958516delinsAAAAAG	NCBI36
NG_021151.1:g.42997_43002delinsAAAAAG
NG_021151.2:g.42944_42949delinsAAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1845_1850delinsAAAAAG MANE Select	ENSP00000368100.4:p.Leu615=
ENST00000638452.2:c.1548_1553delinsAAAAAG	ENSP00000492349.2:p.Leu516=
ENST00000638504.1:n.1480-184_1480-179delinsAAAAAG
ENST00000638568.2:c.1548_1553delinsAAAAAG	ENSP00000491158.2:p.Leu516=
ENST00000639899.1:n.2364_2369delinsAAAAAG
ENST00000640655.2:c.1548_1553delinsAAAAAG	ENSP00000491596.2:p.Leu516=
ENST00000651160.1:c.*16-184_*16-179delinsAAAAAG	ENSP00000498829.1:n.*16-184_*16-179delinsAAAAAG
ENST00000651658.1:n.2388_2393delinsAAAAAG
ENST00000651723.1:c.*1928_*1933delinsAAAAAG	ENSP00000498237.1:n.*1928_*1933delinsAAAAAG
ENST00000652016.1:c.*89-184_*89-179delinsAAAAAG	ENSP00000498267.1:n.*89-184_*89-179delinsAAAAAG
ENST00000652485.1:c.1878_1883delinsAAAAAG	ENSP00000498973.1:p.Leu626=
ENST00000378823.7:c.1845_1850delinsAAAAAG	ENSP00000368100.4:p.Leu615=
ENST00000423956.5:c.*31_*36delinsAAAAAG	ENSP00000390971.1:n.*31_*36delinsAAAAAG
ENST00000453394.5:c.1662_1667delinsAAAAAG	ENSP00000400049.1:p.Leu554=
ENST00000533482.5:c.*1471_*1476delinsAAAAAG	ENSP00000431225.1:n.*1471_*1476delinsAAAAAG
NM_005732.3:c.1845_1850delinsAAAAAG	NP_005723.2:p.Leu615=
NM_005732.4:c.1845_1850delinsAAAAAG MANE Select	NP_005723.2:p.Leu615=