Canonical Allele Identifier: CA3405559

Gene: RAD50

Linked Data

• dbSNP Id: rs758788698
• ExAC: 5:131953949 A / ATGTTCACTGT
• MyVariant Identifiers: chr5:g.131953949_131953950insTGTTCACTGT (hg19) ; chr5:g.132618257_132618258insTGTTCACTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618257_132618258insTGTTCACTGT , CM000667.2:g.132618257_132618258insTGTTCACTGT	GRCh38
NC_000005.9:g.131953949_131953950insTGTTCACTGT , CM000667.1:g.131953949_131953950insTGTTCACTGT	GRCh37
NC_000005.8:g.131981848_131981849insTGTTCACTGT	NCBI36
NG_021151.1:g.66334_66335insTGTTCACTGT
NG_021151.2:g.66281_66282insTGTTCACTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3352_3353insTGTTCACTGT MANE Select	ENSP00000368100.4:p.Asn1118MetfsTer12
ENST00000638452.2:c.3055_3056insTGTTCACTGT	ENSP00000492349.2:p.Asn1019MetfsTer12
ENST00000638504.1:n.2960_2961insTGTTCACTGT
ENST00000638568.2:c.3055_3056insTGTTCACTGT	ENSP00000491158.2:p.Asn1019MetfsTer12
ENST00000639899.1:n.3871_3872insTGTTCACTGT
ENST00000640655.2:c.3055_3056insTGTTCACTGT	ENSP00000491596.2:p.Asn1019MetfsTer12
ENST00000651249.1:c.188_189insTGTTCACTGT
ENST00000378823.7:c.3352_3353insTGTTCACTGT	ENSP00000368100.4:p.Asn1118MetfsTer12
ENST00000533482.5:c.*2978_*2979insTGTTCACTGT	ENSP00000431225.1:n.*2978_*2979insTGTTCACTGT
NM_005732.3:c.3352_3353insTGTTCACTGT	NP_005723.2:p.Asn1118MetfsTer12
NM_005732.4:c.3352_3353insTGTTCACTGT MANE Select	NP_005723.2:p.Asn1118MetfsTer12