Canonical Allele Identifier: CA3405150

Gene: RAD50

Linked Data

• ClinVar Variation Id: 576376
• ClinVar RCV Id: RCV000698856
• dbSNP Id: rs769047012
• ExAC: 5:131925347 CTG / C
• gnomAD v2: 5-131925347-CTG-C
• gnomAD v4: 5-132589655-CTG-C
• MyVariant Identifiers: chr5:g.131925348_131925349del (hg19) ; chr5:g.132589656_132589657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589656_132589657del , CM000667.2:g.132589656_132589657del	GRCh38
NC_000005.9:g.131925348_131925349del , CM000667.1:g.131925348_131925349del	GRCh37
NC_000005.8:g.131953247_131953248del	NCBI36
NG_021151.1:g.37733_37734del
NG_021151.2:g.37680_37681del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1271_1272del MANE Select	ENSP00000368100.4:p.Leu424GlnfsTer7
ENST00000638452.2:c.974_975del	ENSP00000492349.2:p.Leu325GlnfsTer7
ENST00000638504.1:n.957_958del
ENST00000638568.2:c.974_975del	ENSP00000491158.2:p.Leu325GlnfsTer7
ENST00000639899.1:n.1790_1791del
ENST00000640655.2:c.974_975del	ENSP00000491596.2:p.Leu325GlnfsTer7
ENST00000651160.1:c.1271_1272del	ENSP00000498829.1:p.Leu424GlnfsTer7
ENST00000651541.1:c.974_975del	ENSP00000498795.1:p.Leu325GlnfsTer7
ENST00000651658.1:n.1698_1699del
ENST00000651723.1:c.*1354_*1355del	ENSP00000498237.1:n.*1354_*1355del
ENST00000652016.1:c.1271_1272del	ENSP00000498267.1:p.Leu424GlnfsTer7
ENST00000652485.1:c.1271_1272del	ENSP00000498973.1:p.Leu424GlnfsTer7
ENST00000378823.7:c.1271_1272del	ENSP00000368100.4:p.Leu424GlnfsTer7
ENST00000423956.5:c.1271_1272del	ENSP00000390971.1:p.Leu424GlnfsTer7
ENST00000453394.5:c.1271_1272del	ENSP00000400049.1:p.Leu424GlnfsTer7
ENST00000533482.5:c.*897_*898del	ENSP00000431225.1:n.*897_*898del
NM_005732.3:c.1271_1272del	NP_005723.2:p.Leu424GlnfsTer7
NM_005732.4:c.1271_1272del MANE Select	NP_005723.2:p.Leu424GlnfsTer7