Canonical Allele Identifier: CA1583229567

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609161_132609163delinsGAA , CM000667.2:g.132609161_132609163delinsGAA	GRCh38
NC_000005.9:g.131944853_131944855delinsGAA , CM000667.1:g.131944853_131944855delinsGAA	GRCh37
NC_000005.8:g.131972752_131972754delinsGAA	NCBI36
NG_021151.1:g.57238_57240delinsGAA
NG_021151.2:g.57185_57187delinsGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2874_2876delinsGAA MANE Select	ENSP00000368100.4:p.Met958=
ENST00000638452.2:c.2577_2579delinsGAA	ENSP00000492349.2:p.Met859=
ENST00000638504.1:n.2482_2484delinsGAA
ENST00000638568.2:c.2577_2579delinsGAA	ENSP00000491158.2:p.Met859=
ENST00000639899.1:n.3393_3395delinsGAA
ENST00000640655.2:c.2577_2579delinsGAA	ENSP00000491596.2:p.Met859=
ENST00000651160.1:c.*1018_*1020delinsGAA	ENSP00000498829.1:n.*1018_*1020delinsGAA
ENST00000651723.1:c.*2957_*2959delinsGAA	ENSP00000498237.1:n.*2957_*2959delinsGAA
ENST00000378823.7:c.2874_2876delinsGAA	ENSP00000368100.4:p.Met958=
ENST00000423956.5:c.*1060_*1062delinsGAA	ENSP00000390971.1:n.*1060_*1062delinsGAA
ENST00000533482.5:c.*2500_*2502delinsGAA	ENSP00000431225.1:n.*2500_*2502delinsGAA
NM_005732.3:c.2874_2876delinsGAA	NP_005723.2:p.Met958=
NM_005732.4:c.2874_2876delinsGAA MANE Select	NP_005723.2:p.Met958=