Canonical Allele Identifier: CA190771

Gene: RAD50

Linked Data

• ClinVar Variation Id: 185010
• ClinVar RCV Id: RCV000164362 ; RCV000409900
• dbSNP Id: rs760146707
• ExAC: 5:131915688 GT / G
• gnomAD v2: 5-131915688-GT-G
• gnomAD v3: 5-132579996-GT-G
• gnomAD v4: 5-132579996-GT-G
• MyVariant Identifiers: chr5:g.131915689del (hg19) ; chr5:g.132579997del (hg38)
• PubMed: PMID:14684699 ; PMID:16385572 ; PMID:16474176 ; PMID:19190165 ; PMID:19904603 ; PMID:20571869 ; PMID:21811815 ; PMID:24093751 ; PMID:25452441

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579997del , CM000667.2:g.132579997del	GRCh38
NC_000005.9:g.131915689del , CM000667.1:g.131915689del	GRCh37
NC_000005.8:g.131943588del	NCBI36
NG_021151.1:g.28074del
NG_021151.2:g.28021del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.687del MANE Select	ENSP00000368100.4:p.Ser229ArgfsTer6
ENST00000638452.2:c.390del	ENSP00000492349.2:p.Ser130ArgfsTer6
ENST00000638504.1:n.442+4069del
ENST00000638568.2:c.390del	ENSP00000491158.2:p.Ser130ArgfsTer6
ENST00000639899.1:n.1206del
ENST00000640655.2:c.390del	ENSP00000491596.2:p.Ser130ArgfsTer6
ENST00000651160.1:c.687del	ENSP00000498829.1:p.Ser229ArgfsTer6
ENST00000651541.1:c.390del	ENSP00000498795.1:p.Ser130ArgfsTer6
ENST00000651658.1:n.1114del
ENST00000651723.1:c.*770del	ENSP00000498237.1:n.*770del
ENST00000652016.1:c.687del	ENSP00000498267.1:p.Ser229ArgfsTer6
ENST00000652485.1:c.687del	ENSP00000498973.1:p.Ser229ArgfsTer6
ENST00000378823.7:c.687del	ENSP00000368100.4:p.Ser229ArgfsTer6
ENST00000423956.5:c.687del	ENSP00000390971.1:p.Ser229ArgfsTer6
ENST00000453394.5:c.687del	ENSP00000400049.1:p.Ser229ArgfsTer6
ENST00000487596.1:n.253del
ENST00000533482.5:c.*313del	ENSP00000431225.1:n.*313del
NM_005732.3:c.687del	NP_005723.2:p.Ser229ArgfsTer6
NM_005732.4:c.687del MANE Select	NP_005723.2:p.Ser229ArgfsTer6