Canonical Allele Identifier: CA127265527

Gene: RAD50

Linked Data

• dbSNP Id: rs386692490

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618086_132618088delinsAAC , CM000667.2:g.132618086_132618088delinsAAC	GRCh38
NC_000005.9:g.131953778_131953780delinsAAC , CM000667.1:g.131953778_131953780delinsAAC	GRCh37
NC_000005.8:g.131981677_131981679delinsAAC	NCBI36
NG_021151.1:g.66163_66165delinsAAC
NG_021151.2:g.66110_66112delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3181_3183delinsAAC MANE Select	ENSP00000368100.4:p.Glu1061Asn
ENST00000638452.2:c.2884_2886delinsAAC	ENSP00000492349.2:p.Glu962Asn
ENST00000638504.1:n.2789_2791delinsAAC
ENST00000638568.2:c.2884_2886delinsAAC	ENSP00000491158.2:p.Glu962Asn
ENST00000639899.1:n.3700_3702delinsAAC
ENST00000640655.2:c.2884_2886delinsAAC	ENSP00000491596.2:p.Glu962Asn
ENST00000651249.1:c.17_19delinsAAC
ENST00000378823.7:c.3181_3183delinsAAC	ENSP00000368100.4:p.Glu1061Asn
ENST00000533482.5:c.*2807_*2809delinsAAC	ENSP00000431225.1:n.*2807_*2809delinsAAC
NM_005732.3:c.3181_3183delinsAAC	NP_005723.2:p.Glu1061Asn
NM_005732.4:c.3181_3183delinsAAC MANE Select	NP_005723.2:p.Glu1061Asn