Canonical Allele Identifier: CA804016206

Gene: RAD50

Linked Data

• dbSNP Id: rs1440731182
• gnomAD v3: 5-132575602-AAATT-A
• gnomAD v4: 5-132575602-AAATT-A
• MyVariant Identifiers: chr5:g.131911295_131911298del (hg19) ; chr5:g.132575603_132575606del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575609_132575612del , CM000667.2:g.132575609_132575612del	GRCh38
NC_000005.9:g.131911301_131911304del , CM000667.1:g.131911301_131911304del	GRCh37
NC_000005.8:g.131939200_131939203del	NCBI36
NG_021151.1:g.23686_23689del
NG_021151.2:g.23633_23636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.214-168_214-165del MANE Select	ENSP00000368100.4:n.214-168_214-165del
ENST00000638452.2:c.-84-168_-84-165del	ENSP00000492349.2:n.-84-168_-84-165del
ENST00000638504.1:n.291-168_291-165del
ENST00000638568.2:c.-84-168_-84-165del	ENSP00000491158.2:n.-84-168_-84-165del
ENST00000639899.1:n.374-168_374-165del
ENST00000640655.2:c.-84-168_-84-165del	ENSP00000491596.2:n.-84-168_-84-165del
ENST00000651160.1:c.214-168_214-165del	ENSP00000498829.1:n.214-168_214-165del
ENST00000651541.1:c.-84-168_-84-165del	ENSP00000498795.1:n.-84-168_-84-165del
ENST00000651658.1:n.282-168_282-165del
ENST00000651723.1:c.*362-168_*362-165del	ENSP00000498237.1:n.*362-168_*362-165del
ENST00000652016.1:c.214-168_214-165del	ENSP00000498267.1:n.214-168_214-165del
ENST00000652485.1:c.214-168_214-165del	ENSP00000498973.1:n.214-168_214-165del
ENST00000378823.7:c.214-168_214-165del	ENSP00000368100.4:n.214-168_214-165del
ENST00000416135.5:c.-84-168_-84-165del	ENSP00000389515.1:n.-84-168_-84-165del
ENST00000423956.5:c.214-168_214-165del	ENSP00000390971.1:n.214-168_214-165del
ENST00000453394.5:c.214-168_214-165del	ENSP00000400049.1:n.214-168_214-165del
ENST00000533482.5:c.214-168_214-165del	ENSP00000431225.1:n.214-168_214-165del
NM_005732.3:c.214-168_214-165del	NP_005723.2:n.214-168_214-165del
NM_005732.4:c.214-168_214-165del MANE Select	NP_005723.2:n.214-168_214-165del