Canonical Allele Identifier: CA562777867

Gene: RAD50

Linked Data

• dbSNP Id: rs1158498598
• gnomAD v2: 5-131953697-CT-C
• gnomAD v3: 5-132618005-CT-C
• gnomAD v4: 5-132618005-CT-C
• MyVariant Identifiers: chr5:g.131953698del (hg19) ; chr5:g.132618006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618009del , CM000667.2:g.132618009del	GRCh38
NC_000005.9:g.131953701del , CM000667.1:g.131953701del	GRCh37
NC_000005.8:g.131981600del	NCBI36
NG_021151.1:g.66086del
NG_021151.2:g.66033del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3165-61del MANE Select	ENSP00000368100.4:n.3165-61del
ENST00000638452.2:c.2868-61del	ENSP00000492349.2:n.2868-61del
ENST00000638504.1:n.2773-61del
ENST00000638568.2:c.2868-61del	ENSP00000491158.2:n.2868-61del
ENST00000639899.1:n.3684-61del
ENST00000640655.2:c.2868-61del	ENSP00000491596.2:n.2868-61del
ENST00000378823.7:c.3165-61del	ENSP00000368100.4:n.3165-61del
ENST00000533482.5:c.*2791-61del	ENSP00000431225.1:n.*2791-61del
NM_005732.3:c.3165-61del	NP_005723.2:n.3165-61del
NM_005732.4:c.3165-61del MANE Select	NP_005723.2:n.3165-61del