Canonical Allele Identifier: CA1583229634

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609269_132609272delinsTTTC , CM000667.2:g.132609269_132609272delinsTTTC	GRCh38
NC_000005.9:g.131944961_131944964delinsTTTC , CM000667.1:g.131944961_131944964delinsTTTC	GRCh37
NC_000005.8:g.131972860_131972863delinsTTTC	NCBI36
NG_021151.1:g.57346_57349delinsTTTC
NG_021151.2:g.57293_57296delinsTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2923-14_2923-11delinsTTTC MANE Select	ENSP00000368100.4:n.2923-14_2923-11delinsTTTC
ENST00000638452.2:c.2626-14_2626-11delinsTTTC	ENSP00000492349.2:n.2626-14_2626-11delinsTTTC
ENST00000638504.1:n.2531-14_2531-11delinsTTTC
ENST00000638568.2:c.2626-14_2626-11delinsTTTC	ENSP00000491158.2:n.2626-14_2626-11delinsTTTC
ENST00000639899.1:n.3442-14_3442-11delinsTTTC
ENST00000640655.2:c.2626-14_2626-11delinsTTTC	ENSP00000491596.2:n.2626-14_2626-11delinsTTTC
ENST00000651160.1:c.*1067-14_*1067-11delinsTTTC	ENSP00000498829.1:n.*1067-14_*1067-11delinsTTTC
ENST00000651723.1:c.*3006-14_*3006-11delinsTTTC	ENSP00000498237.1:n.*3006-14_*3006-11delinsTTTC
ENST00000378823.7:c.2923-14_2923-11delinsTTTC	ENSP00000368100.4:n.2923-14_2923-11delinsTTTC
ENST00000423956.5:c.*1109-14_*1109-11delinsTTTC	ENSP00000390971.1:n.*1109-14_*1109-11delinsTTTC
ENST00000533482.5:c.*2549-14_*2549-11delinsTTTC	ENSP00000431225.1:n.*2549-14_*2549-11delinsTTTC
NM_005732.3:c.2923-14_2923-11delinsTTTC	NP_005723.2:n.2923-14_2923-11delinsTTTC
NM_005732.4:c.2923-14_2923-11delinsTTTC MANE Select	NP_005723.2:n.2923-14_2923-11delinsTTTC