Canonical Allele Identifier: CA170031

Gene: RAD50

Linked Data

• ClinVar Variation Id: 143015
• ClinVar RCV Id: RCV000132534 ; RCV000662958
• dbSNP Id: rs587782895
• ExAC: 5:131939711 CAA / C
• gnomAD v2: 5-131939711-CAA-C
• gnomAD v3: 5-132604019-CAA-C
• gnomAD v4: 5-132604019-CAA-C
• MyVariant Identifiers: chr5:g.131939712_131939713del (hg19) ; chr5:g.132604020_132604021del (hg38)
• PubMed: PMID:26824983

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604020_132604021del , CM000667.2:g.132604020_132604021del	GRCh38
NC_000005.9:g.131939712_131939713del , CM000667.1:g.131939712_131939713del	GRCh37
NC_000005.8:g.131967611_131967612del	NCBI36
NG_021151.1:g.52097_52098del
NG_021151.2:g.52044_52045del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2498_2499del MANE Select	ENSP00000368100.4:p.Gln833ArgfsTer11
ENST00000638452.2:c.2201_2202del	ENSP00000492349.2:p.Gln734ArgfsTer11
ENST00000638504.1:n.2106_2107del
ENST00000638568.2:c.2201_2202del	ENSP00000491158.2:p.Gln734ArgfsTer11
ENST00000639899.1:n.3017_3018del
ENST00000640655.2:c.2201_2202del	ENSP00000491596.2:p.Gln734ArgfsTer11
ENST00000651160.1:c.*642_*643del	ENSP00000498829.1:n.*642_*643del
ENST00000651658.1:n.3041_3042del
ENST00000651723.1:c.*2581_*2582del	ENSP00000498237.1:n.*2581_*2582del
ENST00000652016.1:c.*715_*716del	ENSP00000498267.1:n.*715_*716del
ENST00000652485.1:c.2531_2532del	ENSP00000498973.1:p.Gln844ArgfsTer11
ENST00000378823.7:c.2498_2499del	ENSP00000368100.4:p.Gln833ArgfsTer11
ENST00000423956.5:c.*684_*685del	ENSP00000390971.1:n.*684_*685del
ENST00000533482.5:c.*2124_*2125del	ENSP00000431225.1:n.*2124_*2125del
NM_005732.3:c.2498_2499del	NP_005723.2:p.Gln833ArgfsTer11
NM_005732.4:c.2498_2499del MANE Select	NP_005723.2:p.Gln833ArgfsTer11