Canonical Allele Identifier: CA349009

Gene: RAD50

Linked Data

• ClinVar Variation Id: 220806
• ClinVar RCV Id: RCV000204816
• dbSNP Id: rs864622660
• MyVariant Identifiers: chr5:g.131930582_131930583delinsAA (hg19) ; chr5:g.132594890_132594891delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594890_132594891delinsAA , CM000667.2:g.132594890_132594891delinsAA	GRCh38
NC_000005.9:g.131930582_131930583delinsAA , CM000667.1:g.131930582_131930583delinsAA	GRCh37
NC_000005.8:g.131958481_131958482delinsAA	NCBI36
NG_021151.1:g.42967_42968delinsAA
NG_021151.2:g.42914_42915delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1815_1816delinsAA MANE Select	ENSP00000368100.4:p.Gln606Lys
ENST00000638452.2:c.1518_1519delinsAA	ENSP00000492349.2:p.Gln507Lys
ENST00000638504.1:n.1480-214_1480-213delinsAA
ENST00000638568.2:c.1518_1519delinsAA	ENSP00000491158.2:p.Gln507Lys
ENST00000639899.1:n.2334_2335delinsAA
ENST00000640655.2:c.1518_1519delinsAA	ENSP00000491596.2:p.Gln507Lys
ENST00000651160.1:c.*16-214_*16-213delinsAA	ENSP00000498829.1:n.*16-214_*16-213delinsAA
ENST00000651658.1:n.2358_2359delinsAA
ENST00000651723.1:c.*1898_*1899delinsAA	ENSP00000498237.1:n.*1898_*1899delinsAA
ENST00000652016.1:c.*89-214_*89-213delinsAA	ENSP00000498267.1:n.*89-214_*89-213delinsAA
ENST00000652485.1:c.1848_1849delinsAA	ENSP00000498973.1:p.Gln617Lys
ENST00000378823.7:c.1815_1816delinsAA	ENSP00000368100.4:p.Gln606Lys
ENST00000423956.5:c.*1_*2delinsAA	ENSP00000390971.1:n.*1_*2delinsAA
ENST00000453394.5:c.1632_1633delinsAA	ENSP00000400049.1:p.Gln545Lys
ENST00000533482.5:c.*1441_*1442delinsAA	ENSP00000431225.1:n.*1441_*1442delinsAA
NM_005732.3:c.1815_1816delinsAA	NP_005723.2:p.Gln606Lys
NM_005732.4:c.1815_1816delinsAA MANE Select	NP_005723.2:p.Gln606Lys