Canonical Allele Identifier: CA2573138997

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1488044
• ClinVar RCV Id: RCV002033699
• dbSNP Id: rs2149849876

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609343_132609345del , CM000667.2:g.132609343_132609345del	GRCh38
NC_000005.9:g.131945035_131945037del , CM000667.1:g.131945035_131945037del	GRCh37
NC_000005.8:g.131972934_131972936del	NCBI36
NG_021151.1:g.57420_57422del
NG_021151.2:g.57367_57369del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2983_2985del MANE Select	ENSP00000368100.4:p.Glu995del
ENST00000638452.2:c.2686_2688del	ENSP00000492349.2:p.Glu896del
ENST00000638504.1:n.2591_2593del
ENST00000638568.2:c.2686_2688del	ENSP00000491158.2:p.Glu896del
ENST00000639899.1:n.3502_3504del
ENST00000640655.2:c.2686_2688del	ENSP00000491596.2:p.Glu896del
ENST00000651723.1:c.*3066_*3068del	ENSP00000498237.1:n.*3066_*3068del
ENST00000378823.7:c.2983_2985del	ENSP00000368100.4:p.Glu995del
ENST00000533482.5:c.*2609_*2611del	ENSP00000431225.1:n.*2609_*2611del
NM_005732.3:c.2983_2985del	NP_005723.2:p.Glu995del
NM_005732.4:c.2983_2985del MANE Select	NP_005723.2:p.Glu995del