Canonical Allele Identifier: CA1583246359

Gene: RAD50

Linked Data

• dbSNP Id: rs1750959148

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604987_132604988insTTTTTAGATGTTGA , CM000667.2:g.132604987_132604988insTTTTTAGATGTTGA	GRCh38
NC_000005.9:g.131940679_131940680insTTTTTAGATGTTGA , CM000667.1:g.131940679_131940680insTTTTTAGATGTTGA	GRCh37
NC_000005.8:g.131968578_131968579insTTTTTAGATGTTGA	NCBI36
NG_021151.1:g.53064_53065insTTTTTAGATGTTGA
NG_021151.2:g.53011_53012insTTTTTAGATGTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2706_2707insTTTTTAGATGTTGA MANE Select	ENSP00000368100.4:p.Arg903PhefsTer8
ENST00000638452.2:c.2409_2410insTTTTTAGATGTTGA	ENSP00000492349.2:p.Arg804PhefsTer8
ENST00000638504.1:n.2314_2315insTTTTTAGATGTTGA
ENST00000638568.2:c.2409_2410insTTTTTAGATGTTGA	ENSP00000491158.2:p.Arg804PhefsTer8
ENST00000639899.1:n.3225_3226insTTTTTAGATGTTGA
ENST00000640655.2:c.2409_2410insTTTTTAGATGTTGA	ENSP00000491596.2:p.Arg804PhefsTer8
ENST00000651160.1:c.*850_*851insTTTTTAGATGTTGA	ENSP00000498829.1:n.*850_*851insTTTTTAGATGTTGA
ENST00000651723.1:c.*2789_*2790insTTTTTAGATGTTGA	ENSP00000498237.1:n.*2789_*2790insTTTTTAGATGTTGA
ENST00000652016.1:c.*923_*924insTTTTTAGATGTTGA	ENSP00000498267.1:n.*923_*924insTTTTTAGATGTTGA
ENST00000378823.7:c.2706_2707insTTTTTAGATGTTGA	ENSP00000368100.4:p.Arg903PhefsTer8
ENST00000423956.5:c.*892_*893insTTTTTAGATGTTGA	ENSP00000390971.1:n.*892_*893insTTTTTAGATGTTGA
ENST00000533482.5:c.*2332_*2333insTTTTTAGATGTTGA	ENSP00000431225.1:n.*2332_*2333insTTTTTAGATGTTGA
NM_005732.3:c.2706_2707insTTTTTAGATGTTGA	NP_005723.2:p.Arg903PhefsTer8
NM_005732.4:c.2706_2707insTTTTTAGATGTTGA MANE Select	NP_005723.2:p.Arg903PhefsTer8