Canonical Allele Identifier: CA3404935

Gene: RAD50

Linked Data

• dbSNP Id: rs777962483
• ExAC: 5:131911435 G / GTAACA
• gnomAD v2: 5-131911435-G-GTAACA
• gnomAD v3: 5-132575743-G-GTAACA
• gnomAD v4: 5-132575743-G-GTAACA
• MyVariant Identifiers: chr5:g.131911435_131911436insTAACA (hg19) ; chr5:g.132575743_132575744insTAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575747_132575751dup , CM000667.2:g.132575747_132575751dup	GRCh38
NC_000005.9:g.131911439_131911443dup , CM000667.1:g.131911439_131911443dup	GRCh37
NC_000005.8:g.131939338_131939342dup	NCBI36
NG_021151.1:g.23824_23828dup
NG_021151.2:g.23771_23775dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.214-30_214-26dup MANE Select	ENSP00000368100.4:n.214-30_214-26dup
ENST00000638452.2:c.-84-30_-84-26dup	ENSP00000492349.2:n.-84-30_-84-26dup
ENST00000638504.1:n.291-30_291-26dup
ENST00000638568.2:c.-84-30_-84-26dup	ENSP00000491158.2:n.-84-30_-84-26dup
ENST00000639899.1:n.374-30_374-26dup
ENST00000640655.2:c.-84-30_-84-26dup	ENSP00000491596.2:n.-84-30_-84-26dup
ENST00000651160.1:c.214-30_214-26dup	ENSP00000498829.1:n.214-30_214-26dup
ENST00000651541.1:c.-84-30_-84-26dup	ENSP00000498795.1:n.-84-30_-84-26dup
ENST00000651658.1:n.282-30_282-26dup
ENST00000651723.1:c.*362-30_*362-26dup	ENSP00000498237.1:n.*362-30_*362-26dup
ENST00000652016.1:c.214-30_214-26dup	ENSP00000498267.1:n.214-30_214-26dup
ENST00000652485.1:c.214-30_214-26dup	ENSP00000498973.1:n.214-30_214-26dup
ENST00000378823.7:c.214-30_214-26dup	ENSP00000368100.4:n.214-30_214-26dup
ENST00000416135.5:c.-84-30_-84-26dup	ENSP00000389515.1:n.-84-30_-84-26dup
ENST00000423956.5:c.214-30_214-26dup	ENSP00000390971.1:n.214-30_214-26dup
ENST00000453394.5:c.214-30_214-26dup	ENSP00000400049.1:n.214-30_214-26dup
ENST00000533482.5:c.214-30_214-26dup	ENSP00000431225.1:n.214-30_214-26dup
NM_005732.3:c.214-30_214-26dup	NP_005723.2:n.214-30_214-26dup
NM_005732.4:c.214-30_214-26dup MANE Select	NP_005723.2:n.214-30_214-26dup