Canonical Allele Identifier: CA562777879

Gene: RAD50

Linked Data

• dbSNP Id: rs1174456268
• gnomAD v2: 5-131953738-ATT-A
• MyVariant Identifiers: chr5:g.131953739_131953740del (hg19) ; chr5:g.132618047_132618048del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618048_132618049del , CM000667.2:g.132618048_132618049del	GRCh38
NC_000005.9:g.131953740_131953741del , CM000667.1:g.131953740_131953741del	GRCh37
NC_000005.8:g.131981639_131981640del	NCBI36
NG_021151.1:g.66125_66126del
NG_021151.2:g.66072_66073del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3165-22_3165-21del MANE Select	ENSP00000368100.4:n.3165-22_3165-21del
ENST00000638452.2:c.2868-22_2868-21del	ENSP00000492349.2:n.2868-22_2868-21del
ENST00000638504.1:n.2773-22_2773-21del
ENST00000638568.2:c.2868-22_2868-21del	ENSP00000491158.2:n.2868-22_2868-21del
ENST00000639899.1:n.3684-22_3684-21del
ENST00000640655.2:c.2868-22_2868-21del	ENSP00000491596.2:n.2868-22_2868-21del
ENST00000378823.7:c.3165-22_3165-21del	ENSP00000368100.4:n.3165-22_3165-21del
ENST00000533482.5:c.*2791-22_*2791-21del	ENSP00000431225.1:n.*2791-22_*2791-21del
NM_005732.3:c.3165-22_3165-21del	NP_005723.2:n.3165-22_3165-21del
NM_005732.4:c.3165-22_3165-21del MANE Select	NP_005723.2:n.3165-22_3165-21del