Canonical Allele Identifier: CA563057416

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2075745
• ClinVar RCV Id: RCV002982570
• dbSNP Id: rs1444096550
• gnomAD v2: 5-131944908-TA-T
• gnomAD v4: 5-132609216-TA-T
• MyVariant Identifiers: chr5:g.131944909del (hg19) ; chr5:g.132609217del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609220del , CM000667.2:g.132609220del	GRCh38
NC_000005.9:g.131944912del , CM000667.1:g.131944912del	GRCh37
NC_000005.8:g.131972811del	NCBI36
NG_021151.1:g.57297del
NG_021151.2:g.57244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2922+11del MANE Select	ENSP00000368100.4:n.2922+11del
ENST00000638452.2:c.2625+11del	ENSP00000492349.2:n.2625+11del
ENST00000638504.1:n.2530+11del
ENST00000638568.2:c.2625+11del	ENSP00000491158.2:n.2625+11del
ENST00000639899.1:n.3441+11del
ENST00000640655.2:c.2625+11del	ENSP00000491596.2:n.2625+11del
ENST00000651160.1:c.*1066+11del	ENSP00000498829.1:n.*1066+11del
ENST00000651723.1:c.*3005+11del	ENSP00000498237.1:n.*3005+11del
ENST00000378823.7:c.2922+11del	ENSP00000368100.4:n.2922+11del
ENST00000423956.5:c.*1108+11del	ENSP00000390971.1:n.*1108+11del
ENST00000533482.5:c.*2548+11del	ENSP00000431225.1:n.*2548+11del
NM_005732.3:c.2922+11del	NP_005723.2:n.2922+11del
NM_005732.4:c.2922+11del MANE Select	NP_005723.2:n.2922+11del