Canonical Allele Identifier: CA2580612769

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 1560353
• ClinVar RCV Id: RCV002195607
• dbSNP Id: rs2149866791

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642172_132642174del , CM000667.2:g.132642172_132642174del	GRCh38
NC_000005.9:g.131977864_131977866del , CM000667.1:g.131977864_131977866del	GRCh37
NC_000005.8:g.132005763_132005765del	NCBI36
NG_021151.1:g.90249_90251del
NG_021151.2:g.90196_90198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3753-6_3753-4del (RAD50) MANE Select	ENSP00000368100.4:n.3753-6_3753-4del
ENST00000638452.2:c.3456-6_3456-4del	ENSP00000492349.2:n.3456-6_3456-4del
ENST00000638504.1:n.3361-6_3361-4del
ENST00000638568.2:c.3456-6_3456-4del	ENSP00000491158.2:n.3456-6_3456-4del
ENST00000639899.1:n.4272-6_4272-4del
ENST00000640655.2:c.3456-6_3456-4del	ENSP00000491596.2:n.3456-6_3456-4del
ENST00000651249.1:c.589-6_589-4del (RAD50)
ENST00000378823.7:c.3753-6_3753-4del (RAD50)	ENSP00000368100.4:n.3753-6_3753-4del
ENST00000455677.1:c.388-833_388-831del (RAD50)
ENST00000533482.5:c.*3379-6_*3379-4del (RAD50)	ENSP00000431225.1:n.*3379-6_*3379-4del
NM_005732.3:c.3753-6_3753-4del (RAD50)	NP_005723.2:n.3753-6_3753-4del
NR_132125.1:n.189+27_189+29del (TH2LCRR)
NR_132126.1:n.175-3906_175-3904del (TH2LCRR)
NM_005732.4:c.3753-6_3753-4del (RAD50) MANE Select	NP_005723.2:n.3753-6_3753-4del