Canonical Allele Identifier: CA891843035

Gene: RAD50 TH2LCRR

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642204_132642216dup , CM000667.2:g.132642204_132642216dup	GRCh38
NC_000005.9:g.131977896_131977908dup , CM000667.1:g.131977896_131977908dup	GRCh37
NC_000005.8:g.132005795_132005807dup	NCBI36
NG_021151.1:g.90281_90293dup
NG_021151.2:g.90228_90240dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3779_3791dup (RAD50) MANE Select	ENSP00000368100.4:p.Leu1265Ter
ENST00000638452.2:c.3482_3494dup	ENSP00000492349.2:p.Leu1166Ter
ENST00000638504.1:n.3387_3399dup
ENST00000638568.2:c.3482_3494dup	ENSP00000491158.2:p.Leu1166Ter
ENST00000639899.1:n.4298_4310dup
ENST00000640655.2:c.3482_3494dup	ENSP00000491596.2:p.Leu1166Ter
ENST00000651249.1:c.615_627dup (RAD50)
ENST00000378823.7:c.3779_3791dup (RAD50)	ENSP00000368100.4:p.Leu1265Ter
ENST00000455677.1:c.388-801_388-789dup (RAD50)
ENST00000533482.5:c.*3405_*3417dup (RAD50)	ENSP00000431225.1:n.*3405_*3417dup
NM_005732.3:c.3779_3791dup (RAD50)	NP_005723.2:p.Leu1265Ter
NR_132125.1:n.171_183dup (TH2LCRR)
NR_132126.1:n.175-3951_175-3939dup (TH2LCRR)
NM_005732.4:c.3779_3791dup (RAD50) MANE Select	NP_005723.2:p.Leu1265Ter