Canonical Allele Identifier: CA1081651335

Gene: RAD50

Linked Data

• dbSNP Id: rs1751219446
• gnomAD v3: 5-132618500-TCCCAAGTA-T
• gnomAD v4: 5-132618500-TCCCAAGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618501_132618508del , CM000667.2:g.132618501_132618508del	GRCh38
NC_000005.9:g.131954193_131954200del , CM000667.1:g.131954193_131954200del	GRCh37
NC_000005.8:g.131982092_131982099del	NCBI36
NG_021151.1:g.66578_66585del
NG_021151.2:g.66525_66532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3389+207_3389+214del MANE Select	ENSP00000368100.4:n.3389+207_3389+214del
ENST00000638452.2:c.3092+207_3092+214del	ENSP00000492349.2:n.3092+207_3092+214del
ENST00000638504.1:n.2997+207_2997+214del
ENST00000638568.2:c.3092+207_3092+214del	ENSP00000491158.2:n.3092+207_3092+214del
ENST00000639899.1:n.3908+207_3908+214del
ENST00000640655.2:c.3092+207_3092+214del	ENSP00000491596.2:n.3092+207_3092+214del
ENST00000651249.1:c.225+207_225+214del
ENST00000378823.7:c.3389+207_3389+214del	ENSP00000368100.4:n.3389+207_3389+214del
ENST00000455677.1:c.24+207_24+214del
ENST00000533482.5:c.*3015+207_*3015+214del	ENSP00000431225.1:n.*3015+207_*3015+214del
NM_005732.3:c.3389+207_3389+214del	NP_005723.2:n.3389+207_3389+214del
NM_005732.4:c.3389+207_3389+214del MANE Select	NP_005723.2:n.3389+207_3389+214del