Canonical Allele Identifier: CA1583229590

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609203_132609206delinsTAAG , CM000667.2:g.132609203_132609206delinsTAAG	GRCh38
NC_000005.9:g.131944895_131944898delinsTAAG , CM000667.1:g.131944895_131944898delinsTAAG	GRCh37
NC_000005.8:g.131972794_131972797delinsTAAG	NCBI36
NG_021151.1:g.57280_57283delinsTAAG
NG_021151.2:g.57227_57230delinsTAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2916_2919delinsTAAG MANE Select	ENSP00000368100.4:p.Tyr972=
ENST00000638452.2:c.2619_2622delinsTAAG	ENSP00000492349.2:p.Tyr873=
ENST00000638504.1:n.2524_2527delinsTAAG
ENST00000638568.2:c.2619_2622delinsTAAG	ENSP00000491158.2:p.Tyr873=
ENST00000639899.1:n.3435_3438delinsTAAG
ENST00000640655.2:c.2619_2622delinsTAAG	ENSP00000491596.2:p.Tyr873=
ENST00000651160.1:c.*1060_*1063delinsTAAG	ENSP00000498829.1:n.*1060_*1063delinsTAAG
ENST00000651723.1:c.*2999_*3002delinsTAAG	ENSP00000498237.1:n.*2999_*3002delinsTAAG
ENST00000378823.7:c.2916_2919delinsTAAG	ENSP00000368100.4:p.Tyr972=
ENST00000423956.5:c.*1102_*1105delinsTAAG	ENSP00000390971.1:n.*1102_*1105delinsTAAG
ENST00000533482.5:c.*2542_*2545delinsTAAG	ENSP00000431225.1:n.*2542_*2545delinsTAAG
NM_005732.3:c.2916_2919delinsTAAG	NP_005723.2:p.Tyr972=
NM_005732.4:c.2916_2919delinsTAAG MANE Select	NP_005723.2:p.Tyr972=