Canonical Allele Identifier: CA3405490

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1349944
• ClinVar RCV Id: RCV002039383
• dbSNP Id: rs1554099379
• ExAC: 5:131944962 TTC / T
• gnomAD v2: 5-131944962-TTC-T
• gnomAD v4: 5-132609270-TTC-T
• MyVariant Identifiers: chr5:g.131944963_131944964del (hg19) ; chr5:g.132609271_132609272del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609272_132609273del , CM000667.2:g.132609272_132609273del	GRCh38
NC_000005.9:g.131944964_131944965del , CM000667.1:g.131944964_131944965del	GRCh37
NC_000005.8:g.131972863_131972864del	NCBI36
NG_021151.1:g.57349_57350del
NG_021151.2:g.57296_57297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2923-11_2923-10del MANE Select	ENSP00000368100.4:n.2923-11_2923-10del
ENST00000638452.2:c.2626-11_2626-10del	ENSP00000492349.2:n.2626-11_2626-10del
ENST00000638504.1:n.2531-11_2531-10del
ENST00000638568.2:c.2626-11_2626-10del	ENSP00000491158.2:n.2626-11_2626-10del
ENST00000639899.1:n.3442-11_3442-10del
ENST00000640655.2:c.2626-11_2626-10del	ENSP00000491596.2:n.2626-11_2626-10del
ENST00000651160.1:c.*1067-11_*1067-10del	ENSP00000498829.1:n.*1067-11_*1067-10del
ENST00000651723.1:c.*3006-11_*3006-10del	ENSP00000498237.1:n.*3006-11_*3006-10del
ENST00000378823.7:c.2923-11_2923-10del	ENSP00000368100.4:n.2923-11_2923-10del
ENST00000423956.5:c.*1109-11_*1109-10del	ENSP00000390971.1:n.*1109-11_*1109-10del
ENST00000533482.5:c.*2549-11_*2549-10del	ENSP00000431225.1:n.*2549-11_*2549-10del
NM_005732.3:c.2923-11_2923-10del	NP_005723.2:n.2923-11_2923-10del
NM_005732.4:c.2923-11_2923-10del MANE Select	NP_005723.2:n.2923-11_2923-10del