Canonical Allele Identifier: CA16611813

Gene: RAD50

Linked Data

• ClinVar Variation Id: 408379
• ClinVar RCV Id: RCV000476454
• dbSNP Id: rs1458900761
• gnomAD v4: 5-132579343-C-CT
• MyVariant Identifiers: chr5:g.131915036dupT (hg19) ; chr5:g.132579344dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579344dup , CM000667.2:g.132579344dup	GRCh38
NC_000005.9:g.131915036dup , CM000667.1:g.131915036dup	GRCh37
NC_000005.8:g.131942935dup	NCBI36
NG_021151.1:g.27421dup
NG_021151.2:g.27368dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.393dup MANE Select	ENSP00000368100.4:p.Lys132Ter
ENST00000638452.2:c.96dup	ENSP00000492349.2:p.Lys33Ter
ENST00000638504.1:n.442+3416dup
ENST00000638568.2:c.96dup	ENSP00000491158.2:p.Lys33Ter
ENST00000639899.1:n.553dup
ENST00000640655.2:c.96dup	ENSP00000491596.2:p.Lys33Ter
ENST00000651160.1:c.393dup	ENSP00000498829.1:p.Lys132Ter
ENST00000651541.1:c.96dup	ENSP00000498795.1:p.Lys33Ter
ENST00000651658.1:n.461dup
ENST00000651723.1:c.*476dup	ENSP00000498237.1:n.*476dup
ENST00000652016.1:c.393dup	ENSP00000498267.1:p.Lys132Ter
ENST00000652485.1:c.393dup	ENSP00000498973.1:p.Lys132Ter
ENST00000378823.7:c.393dup	ENSP00000368100.4:p.Lys132Ter
ENST00000416135.5:c.96dup	ENSP00000389515.1:p.Lys33Ter
ENST00000423956.5:c.393dup	ENSP00000390971.1:p.Lys132Ter
ENST00000453394.5:c.393dup	ENSP00000400049.1:p.Lys132Ter
ENST00000533482.5:c.*19dup	ENSP00000431225.1:n.*19dup
NM_005732.3:c.393dup	NP_005723.2:p.Lys132Ter
NM_005732.4:c.393dup MANE Select	NP_005723.2:p.Lys132Ter