Canonical Allele Identifier: CA2675215668

Gene: RAD50

Linked Data

• gnomAD v4: 5-132557078-GTCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557079_132557083del , CM000667.2:g.132557079_132557083del	GRCh38
NC_000005.9:g.131892771_131892775del , CM000667.1:g.131892771_131892775del	GRCh37
NC_000005.8:g.131920670_131920674del	NCBI36
NG_021151.1:g.5156_5160del
NG_021151.2:g.5103_5107del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-246_-242del MANE Select	ENSP00000368100.4:n.-246_-242del
ENST00000638452.2:c.-168-2205_-168-2201del	ENSP00000492349.2:n.-168-2205_-168-2201del
ENST00000638504.1:n.207-2205_207-2201del
ENST00000638568.2:c.-169+606_-169+610del	ENSP00000491158.2:n.-169+606_-169+610del
ENST00000639899.1:n.290-2205_290-2201del
ENST00000640655.2:c.-168-2205_-168-2201del	ENSP00000491596.2:n.-168-2205_-168-2201del
ENST00000651160.1:c.-246_-242del	ENSP00000498829.1:n.-246_-242del
ENST00000651541.1:c.-169+70_-169+74del	ENSP00000498795.1:n.-169+70_-169+74del
ENST00000652016.1:c.-246_-242del	ENSP00000498267.1:n.-246_-242del
ENST00000652485.1:c.-246_-242del	ENSP00000498973.1:n.-246_-242del
ENST00000378823.7:c.-246_-242del	ENSP00000368100.4:n.-246_-242del
ENST00000416135.5:c.-169+606_-169+610del	ENSP00000389515.1:n.-169+606_-169+610del
ENST00000533482.5:c.-246_-242del	ENSP00000431225.1:n.-246_-242del
NM_005732.3:c.-246_-242del	NP_005723.2:n.-246_-242del
NM_005732.4:c.-246_-242del MANE Select	NP_005723.2:n.-246_-242del