Canonical Allele Identifier: CA804023973

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs1160351804
• gnomAD v3: 5-132633922-AAC-A
• gnomAD v4: 5-132633922-AAC-A
• MyVariant Identifiers: chr5:g.131969615_131969616del (hg19) ; chr5:g.132633923_132633924del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132633925_132633926del , CM000667.2:g.132633925_132633926del	GRCh38
NC_000005.9:g.131969617_131969618del , CM000667.1:g.131969617_131969618del	GRCh37
NC_000005.8:g.131997516_131997517del	NCBI36
NG_021151.1:g.82002_82003del
NG_021151.2:g.81949_81950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3390-3190_3390-3189del (RAD50) MANE Select	ENSP00000368100.4:n.3390-3190_3390-3189del
ENST00000638452.2:c.3093-3190_3093-3189del	ENSP00000492349.2:n.3093-3190_3093-3189del
ENST00000638504.1:n.2998-3190_2998-3189del
ENST00000638568.2:c.3093-3190_3093-3189del	ENSP00000491158.2:n.3093-3190_3093-3189del
ENST00000639899.1:n.3909-3190_3909-3189del
ENST00000640655.2:c.3093-3190_3093-3189del	ENSP00000491596.2:n.3093-3190_3093-3189del
ENST00000651249.1:c.226-3190_226-3189del (RAD50)
ENST00000378823.7:c.3390-3190_3390-3189del (RAD50)	ENSP00000368100.4:n.3390-3190_3390-3189del
ENST00000455677.1:c.25-3190_25-3189del (RAD50)
ENST00000533482.5:c.*3016-3190_*3016-3189del (RAD50)	ENSP00000431225.1:n.*3016-3190_*3016-3189del
NM_005732.3:c.3390-3190_3390-3189del (RAD50)	NP_005723.2:n.3390-3190_3390-3189del
NR_132124.1:n.154-3033_154-3032del (TH2LCRR)
NM_005732.4:c.3390-3190_3390-3189del (RAD50) MANE Select	NP_005723.2:n.3390-3190_3390-3189del