Canonical Allele Identifier: CA127265921

Gene: RAD50

Linked Data

• dbSNP Id: rs771112108
• gnomAD v3: 5-132618400-CAG-C
• gnomAD v4: 5-132618400-CAG-C
• MyVariant Identifiers: chr5:g.131954093_131954094del (hg19) ; chr5:g.132618401_132618402del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618403_132618404del , CM000667.2:g.132618403_132618404del	GRCh38
NC_000005.9:g.131954095_131954096del , CM000667.1:g.131954095_131954096del	GRCh37
NC_000005.8:g.131981994_131981995del	NCBI36
NG_021151.1:g.66480_66481del
NG_021151.2:g.66427_66428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3389+109_3389+110del MANE Select	ENSP00000368100.4:n.3389+109_3389+110del
ENST00000638452.2:c.3092+109_3092+110del	ENSP00000492349.2:n.3092+109_3092+110del
ENST00000638504.1:n.2997+109_2997+110del
ENST00000638568.2:c.3092+109_3092+110del	ENSP00000491158.2:n.3092+109_3092+110del
ENST00000639899.1:n.3908+109_3908+110del
ENST00000640655.2:c.3092+109_3092+110del	ENSP00000491596.2:n.3092+109_3092+110del
ENST00000651249.1:c.225+109_225+110del
ENST00000378823.7:c.3389+109_3389+110del	ENSP00000368100.4:n.3389+109_3389+110del
ENST00000455677.1:c.24+109_24+110del
ENST00000533482.5:c.*3015+109_*3015+110del	ENSP00000431225.1:n.*3015+109_*3015+110del
NM_005732.3:c.3389+109_3389+110del	NP_005723.2:n.3389+109_3389+110del
NM_005732.4:c.3389+109_3389+110del MANE Select	NP_005723.2:n.3389+109_3389+110del