Canonical Allele Identifier: CA1583229674

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609339_132609341delinsCAA , CM000667.2:g.132609339_132609341delinsCAA	GRCh38
NC_000005.9:g.131945031_131945033delinsCAA , CM000667.1:g.131945031_131945033delinsCAA	GRCh37
NC_000005.8:g.131972930_131972932delinsCAA	NCBI36
NG_021151.1:g.57416_57418delinsCAA
NG_021151.2:g.57363_57365delinsCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2979_2981delinsCAA MANE Select	ENSP00000368100.4:p.His993=
ENST00000638452.2:c.2682_2684delinsCAA	ENSP00000492349.2:p.His894=
ENST00000638504.1:n.2587_2589delinsCAA
ENST00000638568.2:c.2682_2684delinsCAA	ENSP00000491158.2:p.His894=
ENST00000639899.1:n.3498_3500delinsCAA
ENST00000640655.2:c.2682_2684delinsCAA	ENSP00000491596.2:p.His894=
ENST00000651160.1:c.*1123_*1125delinsCAA	ENSP00000498829.1:n.*1123_*1125delinsCAA
ENST00000651723.1:c.*3062_*3064delinsCAA	ENSP00000498237.1:n.*3062_*3064delinsCAA
ENST00000378823.7:c.2979_2981delinsCAA	ENSP00000368100.4:p.His993=
ENST00000533482.5:c.*2605_*2607delinsCAA	ENSP00000431225.1:n.*2605_*2607delinsCAA
NM_005732.3:c.2979_2981delinsCAA	NP_005723.2:p.His993=
NM_005732.4:c.2979_2981delinsCAA MANE Select	NP_005723.2:p.His993=