Canonical Allele Identifier: CA2499217592

Gene: RAD50

Linked Data

• dbSNP Id: rs2149853882

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618171_132618178del , CM000667.2:g.132618171_132618178del	GRCh38
NC_000005.9:g.131953863_131953870del , CM000667.1:g.131953863_131953870del	GRCh37
NC_000005.8:g.131981762_131981769del	NCBI36
NG_021151.1:g.66248_66255del
NG_021151.2:g.66195_66202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3266_3273del MANE Select	ENSP00000368100.4:p.Lys1089ThrfsTer10
ENST00000638452.2:c.2969_2976del	ENSP00000492349.2:p.Lys990ThrfsTer10
ENST00000638504.1:n.2874_2881del
ENST00000638568.2:c.2969_2976del	ENSP00000491158.2:p.Lys990ThrfsTer10
ENST00000639899.1:n.3785_3792del
ENST00000640655.2:c.2969_2976del	ENSP00000491596.2:p.Lys990ThrfsTer10
ENST00000651249.1:c.102_109del
ENST00000378823.7:c.3266_3273del	ENSP00000368100.4:p.Lys1089ThrfsTer10
ENST00000533482.5:c.*2892_*2899del	ENSP00000431225.1:n.*2892_*2899del
NM_005732.3:c.3266_3273del	NP_005723.2:p.Lys1089ThrfsTer10
NM_005732.4:c.3266_3273del MANE Select	NP_005723.2:p.Lys1089ThrfsTer10