Canonical Allele Identifier: CA1583229582

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609194_132609197delinsAGAC , CM000667.2:g.132609194_132609197delinsAGAC	GRCh38
NC_000005.9:g.131944886_131944889delinsAGAC , CM000667.1:g.131944886_131944889delinsAGAC	GRCh37
NC_000005.8:g.131972785_131972788delinsAGAC	NCBI36
NG_021151.1:g.57271_57274delinsAGAC
NG_021151.2:g.57218_57221delinsAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2907_2910delinsAGAC MANE Select	ENSP00000368100.4:p.Lys969=
ENST00000638452.2:c.2610_2613delinsAGAC	ENSP00000492349.2:p.Lys870=
ENST00000638504.1:n.2515_2518delinsAGAC
ENST00000638568.2:c.2610_2613delinsAGAC	ENSP00000491158.2:p.Lys870=
ENST00000639899.1:n.3426_3429delinsAGAC
ENST00000640655.2:c.2610_2613delinsAGAC	ENSP00000491596.2:p.Lys870=
ENST00000651160.1:c.*1051_*1054delinsAGAC	ENSP00000498829.1:n.*1051_*1054delinsAGAC
ENST00000651723.1:c.*2990_*2993delinsAGAC	ENSP00000498237.1:n.*2990_*2993delinsAGAC
ENST00000378823.7:c.2907_2910delinsAGAC	ENSP00000368100.4:p.Lys969=
ENST00000423956.5:c.*1093_*1096delinsAGAC	ENSP00000390971.1:n.*1093_*1096delinsAGAC
ENST00000533482.5:c.*2533_*2536delinsAGAC	ENSP00000431225.1:n.*2533_*2536delinsAGAC
NM_005732.3:c.2907_2910delinsAGAC	NP_005723.2:p.Lys969=
NM_005732.4:c.2907_2910delinsAGAC MANE Select	NP_005723.2:p.Lys969=