Canonical Allele Identifier: CA2573139071

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1516027
• ClinVar RCV Id: RCV002023642
• dbSNP Id: rs2149837696

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579331_132579332insGAA , CM000667.2:g.132579331_132579332insGAA	GRCh38
NC_000005.9:g.131915023_131915024insGAA , CM000667.1:g.131915023_131915024insGAA	GRCh37
NC_000005.8:g.131942922_131942923insGAA	NCBI36
NG_021151.1:g.27408_27409insGAA
NG_021151.2:g.27355_27356insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.380_381insGAA MANE Select	ENSP00000368100.4:p.Val127_Ser128insAsn
ENST00000638452.2:c.83_84insGAA	ENSP00000492349.2:p.Val28_Ser29insAsn
ENST00000638504.1:n.442+3403_442+3404insGAA
ENST00000638568.2:c.83_84insGAA	ENSP00000491158.2:p.Val28_Ser29insAsn
ENST00000639899.1:n.540_541insGAA
ENST00000640655.2:c.83_84insGAA	ENSP00000491596.2:p.Val28_Ser29insAsn
ENST00000651160.1:c.380_381insGAA	ENSP00000498829.1:p.Val127_Ser128insAsn
ENST00000651541.1:c.83_84insGAA	ENSP00000498795.1:p.Val28_Ser29insAsn
ENST00000651658.1:n.448_449insGAA
ENST00000651723.1:c.*463_*464insGAA	ENSP00000498237.1:n.*463_*464insGAA
ENST00000652016.1:c.380_381insGAA	ENSP00000498267.1:p.Val127_Ser128insAsn
ENST00000652485.1:c.380_381insGAA	ENSP00000498973.1:p.Val127_Ser128insAsn
ENST00000378823.7:c.380_381insGAA	ENSP00000368100.4:p.Val127_Ser128insAsn
ENST00000416135.5:c.83_84insGAA	ENSP00000389515.1:p.Val28_Ser29insAsn
ENST00000423956.5:c.380_381insGAA	ENSP00000390971.1:p.Val127_Ser128insAsn
ENST00000453394.5:c.380_381insGAA	ENSP00000400049.1:p.Val127_Ser128insAsn
ENST00000533482.5:c.*6_*7insGAA	ENSP00000431225.1:n.*6_*7insGAA
NM_005732.3:c.380_381insGAA	NP_005723.2:p.Val127_Ser128insAsn
NM_005732.4:c.380_381insGAA MANE Select	NP_005723.2:p.Val127_Ser128insAsn