Canonical Allele Identifier: CA2841655183

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609292_132609293insATTCTTTAAG , CM000667.2:g.132609292_132609293insATTCTTTAAG	GRCh38
NC_000005.9:g.131944984_131944985insATTCTTTAAG , CM000667.1:g.131944984_131944985insATTCTTTAAG	GRCh37
NC_000005.8:g.131972883_131972884insATTCTTTAAG	NCBI36
NG_021151.1:g.57369_57370insATTCTTTAAG
NG_021151.2:g.57316_57317insATTCTTTAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2932_2933insATTCTTTAAG MANE Select	ENSP00000368100.4:p.Thr978AsnfsTer5
ENST00000638452.2:c.2635_2636insATTCTTTAAG	ENSP00000492349.2:p.Thr879AsnfsTer5
ENST00000638504.1:n.2540_2541insATTCTTTAAG
ENST00000638568.2:c.2635_2636insATTCTTTAAG	ENSP00000491158.2:p.Thr879AsnfsTer5
ENST00000639899.1:n.3451_3452insATTCTTTAAG
ENST00000640655.2:c.2635_2636insATTCTTTAAG	ENSP00000491596.2:p.Thr879AsnfsTer5
ENST00000651160.1:c.*1076_*1077insATTCTTTAAG	ENSP00000498829.1:n.*1076_*1077insATTCTTTAAG
ENST00000651723.1:c.*3015_*3016insATTCTTTAAG	ENSP00000498237.1:n.*3015_*3016insATTCTTTAAG
ENST00000378823.7:c.2932_2933insATTCTTTAAG	ENSP00000368100.4:p.Thr978AsnfsTer5
ENST00000423956.5:c.*1118_*1119insATTCTTTAAG	ENSP00000390971.1:n.*1118_*1119insATTCTTTAAG
ENST00000533482.5:c.*2558_*2559insATTCTTTAAG	ENSP00000431225.1:n.*2558_*2559insATTCTTTAAG
NM_005732.3:c.2932_2933insATTCTTTAAG	NP_005723.2:p.Thr978AsnfsTer5
NM_005732.4:c.2932_2933insATTCTTTAAG MANE Select	NP_005723.2:p.Thr978AsnfsTer5