Canonical Allele Identifier: CA1583233714

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618137_132618141delinsCAGAA , CM000667.2:g.132618137_132618141delinsCAGAA	GRCh38
NC_000005.9:g.131953829_131953833delinsCAGAA , CM000667.1:g.131953829_131953833delinsCAGAA	GRCh37
NC_000005.8:g.131981728_131981732delinsCAGAA	NCBI36
NG_021151.1:g.66214_66218delinsCAGAA
NG_021151.2:g.66161_66165delinsCAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3232_3236delinsCAGAA MANE Select	ENSP00000368100.4:p.Gln1078=
ENST00000638452.2:c.2935_2939delinsCAGAA	ENSP00000492349.2:p.Gln979=
ENST00000638504.1:n.2840_2844delinsCAGAA
ENST00000638568.2:c.2935_2939delinsCAGAA	ENSP00000491158.2:p.Gln979=
ENST00000639899.1:n.3751_3755delinsCAGAA
ENST00000640655.2:c.2935_2939delinsCAGAA	ENSP00000491596.2:p.Gln979=
ENST00000651249.1:c.68_72delinsCAGAA
ENST00000378823.7:c.3232_3236delinsCAGAA	ENSP00000368100.4:p.Gln1078=
ENST00000533482.5:c.*2858_*2862delinsCAGAA	ENSP00000431225.1:n.*2858_*2862delinsCAGAA
NM_005732.3:c.3232_3236delinsCAGAA	NP_005723.2:p.Gln1078=
NM_005732.4:c.3232_3236delinsCAGAA MANE Select	NP_005723.2:p.Gln1078=