Canonical Allele Identifier: CA2578402674

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595023del , CM000667.2:g.132595023del	GRCh38
NC_000005.9:g.131930715del , CM000667.1:g.131930715del	GRCh37
NC_000005.8:g.131958614del	NCBI36
NG_021151.1:g.43100del
NG_021151.2:g.43047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1948del MANE Select	ENSP00000368100.4:p.Glu650LysfsTer24
ENST00000638452.2:c.1651del	ENSP00000492349.2:p.Glu551LysfsTer24
ENST00000638504.1:n.1480-81del
ENST00000638568.2:c.1651del	ENSP00000491158.2:p.Glu551LysfsTer24
ENST00000639899.1:n.2467del
ENST00000640655.2:c.1651del	ENSP00000491596.2:p.Glu551LysfsTer24
ENST00000651160.1:c.*16-81del	ENSP00000498829.1:n.*16-81del
ENST00000651658.1:n.2491del
ENST00000651723.1:c.*2031del	ENSP00000498237.1:n.*2031del
ENST00000652016.1:c.*89-81del	ENSP00000498267.1:n.*89-81del
ENST00000652485.1:c.1981del	ENSP00000498973.1:p.Glu661LysfsTer24
ENST00000378823.7:c.1948del	ENSP00000368100.4:p.Glu650LysfsTer24
ENST00000423956.5:c.*134del	ENSP00000390971.1:n.*134del
ENST00000453394.5:c.1765del	ENSP00000400049.1:p.Glu589LysfsTer24
ENST00000533482.5:c.*1574del	ENSP00000431225.1:n.*1574del
NM_005732.3:c.1948del	NP_005723.2:p.Glu650LysfsTer24
NM_005732.4:c.1948del MANE Select	NP_005723.2:p.Glu650LysfsTer24