Canonical Allele Identifier: CA562770464

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 574663
• ClinVar RCV Id: RCV000696654
• dbSNP Id: rs1561661862
• gnomAD v2: 5-131977953-GTTCTGAATATGTGGAGAAA-G
• gnomAD v4: 5-132642261-GTTCTGAATATGTGGAGAAA-G
• MyVariant Identifiers: chr5:g.131977958_131977976del (hg19) ; chr5:g.131977954_131977972del (hg19) ; chr5:g.132642266_132642284del (hg38) ; chr5:g.132642262_132642280del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642266_132642284del , CM000667.2:g.132642266_132642284del	GRCh38
NC_000005.9:g.131977958_131977976del , CM000667.1:g.131977958_131977976del	GRCh37
NC_000005.8:g.132005857_132005875del	NCBI36
NG_021151.1:g.90343_90361del
NG_021151.2:g.90290_90308del

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3841_3859del (RAD50) MANE Select	ENSP00000368100.4:p.Glu1281ThrfsTer14
ENST00000638452.2:c.3544_3562del	ENSP00000492349.2:p.Glu1182ThrfsTer14
ENST00000638504.1:n.3449_3467del
ENST00000638568.2:c.3544_3562del	ENSP00000491158.2:p.Glu1182ThrfsTer14
ENST00000639899.1:n.4360_4378del
ENST00000640655.2:c.3544_3562del	ENSP00000491596.2:p.Glu1182ThrfsTer14
ENST00000651249.1:c.677_695del (RAD50)
ENST00000378823.7:c.3841_3859del (RAD50)	ENSP00000368100.4:p.Glu1281ThrfsTer14
ENST00000455677.1:c.388-739_388-721del (RAD50)
ENST00000533482.5:c.*3467_*3485del (RAD50)	ENSP00000431225.1:n.*3467_*3485del
NM_005732.3:c.3841_3859del (RAD50)	NP_005723.2:p.Glu1281ThrfsTer14
NR_132125.1:n.107_125del (TH2LCRR)
NR_132126.1:n.175-4015_175-3997del (TH2LCRR)
NM_005732.4:c.3841_3859del (RAD50) MANE Select	NP_005723.2:p.Glu1281ThrfsTer14