Canonical Allele Identifier: CA2578402544

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579871del , CM000667.2:g.132579871del	GRCh38
NC_000005.9:g.131915563del , CM000667.1:g.131915563del	GRCh37
NC_000005.8:g.131943462del	NCBI36
NG_021151.1:g.27948del
NG_021151.2:g.27895del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.561del MANE Select	ENSP00000368100.4:p.Ala188ProfsTer2
ENST00000638452.2:c.264del	ENSP00000492349.2:p.Ala89ProfsTer2
ENST00000638504.1:n.442+3943del
ENST00000638568.2:c.264del	ENSP00000491158.2:p.Ala89ProfsTer2
ENST00000639899.1:n.1080del
ENST00000640655.2:c.264del	ENSP00000491596.2:p.Ala89ProfsTer2
ENST00000651160.1:c.561del	ENSP00000498829.1:p.Ala188ProfsTer2
ENST00000651541.1:c.264del	ENSP00000498795.1:p.Ala89ProfsTer2
ENST00000651658.1:n.988del
ENST00000651723.1:c.*644del	ENSP00000498237.1:n.*644del
ENST00000652016.1:c.561del	ENSP00000498267.1:p.Ala188ProfsTer2
ENST00000652485.1:c.561del	ENSP00000498973.1:p.Ala188ProfsTer2
ENST00000378823.7:c.561del	ENSP00000368100.4:p.Ala188ProfsTer2
ENST00000416135.5:c.264del	ENSP00000389515.1:p.Ala89ProfsTer2
ENST00000423956.5:c.561del	ENSP00000390971.1:p.Ala188ProfsTer2
ENST00000453394.5:c.561del	ENSP00000400049.1:p.Ala188ProfsTer2
ENST00000487596.1:n.127del
ENST00000533482.5:c.*187del	ENSP00000431225.1:n.*187del
NM_005732.3:c.561del	NP_005723.2:p.Ala188ProfsTer2
NM_005732.4:c.561del MANE Select	NP_005723.2:p.Ala188ProfsTer2