Canonical Allele Identifier: CA1583233877

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618223_132618226delinsAATG , CM000667.2:g.132618223_132618226delinsAATG	GRCh38
NC_000005.9:g.131953915_131953918delinsAATG , CM000667.1:g.131953915_131953918delinsAATG	GRCh37
NC_000005.8:g.131981814_131981817delinsAATG	NCBI36
NG_021151.1:g.66300_66303delinsAATG
NG_021151.2:g.66247_66250delinsAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3318_3321delinsAATG MANE Select	ENSP00000368100.4:p.Glu1106=
ENST00000638452.2:c.3021_3024delinsAATG	ENSP00000492349.2:p.Glu1007=
ENST00000638504.1:n.2926_2929delinsAATG
ENST00000638568.2:c.3021_3024delinsAATG	ENSP00000491158.2:p.Glu1007=
ENST00000639899.1:n.3837_3840delinsAATG
ENST00000640655.2:c.3021_3024delinsAATG	ENSP00000491596.2:p.Glu1007=
ENST00000651249.1:c.154_157delinsAATG
ENST00000378823.7:c.3318_3321delinsAATG	ENSP00000368100.4:p.Glu1106=
ENST00000533482.5:c.*2944_*2947delinsAATG	ENSP00000431225.1:n.*2944_*2947delinsAATG
NM_005732.3:c.3318_3321delinsAATG	NP_005723.2:p.Glu1106=
NM_005732.4:c.3318_3321delinsAATG MANE Select	NP_005723.2:p.Glu1106=