Canonical Allele Identifier: CA2675217664

Gene: RAD50

Linked Data

• gnomAD v4: 5-132591804-GAATTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591806_132591810del , CM000667.2:g.132591806_132591810del	GRCh38
NC_000005.9:g.131927498_131927502del , CM000667.1:g.131927498_131927502del	GRCh37
NC_000005.8:g.131955397_131955401del	NCBI36
NG_021151.1:g.39883_39887del
NG_021151.2:g.39830_39834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1636-71_1636-67del MANE Select	ENSP00000368100.4:n.1636-71_1636-67del
ENST00000638452.2:c.1339-71_1339-67del	ENSP00000492349.2:n.1339-71_1339-67del
ENST00000638504.1:n.1322-71_1322-67del
ENST00000638568.2:c.1339-71_1339-67del	ENSP00000491158.2:n.1339-71_1339-67del
ENST00000639899.1:n.2155-71_2155-67del
ENST00000640655.2:c.1339-71_1339-67del	ENSP00000491596.2:n.1339-71_1339-67del
ENST00000651160.1:c.1636-71_1636-67del	ENSP00000498829.1:n.1636-71_1636-67del
ENST00000651541.1:c.1339-71_1339-67del	ENSP00000498795.1:n.1339-71_1339-67del
ENST00000651658.1:n.2063-71_2063-67del
ENST00000651723.1:c.*1719-71_*1719-67del	ENSP00000498237.1:n.*1719-71_*1719-67del
ENST00000652016.1:c.1636-71_1636-67del	ENSP00000498267.1:n.1636-71_1636-67del
ENST00000652485.1:c.1669-71_1669-67del	ENSP00000498973.1:n.1669-71_1669-67del
ENST00000378823.7:c.1636-71_1636-67del	ENSP00000368100.4:n.1636-71_1636-67del
ENST00000423956.5:c.1635+400_1635+404del	ENSP00000390971.1:n.1635+400_1635+404del
ENST00000434288.1:c.131-71_131-67del
ENST00000453394.5:c.1453-71_1453-67del	ENSP00000400049.1:n.1453-71_1453-67del
ENST00000533482.5:c.*1262-71_*1262-67del	ENSP00000431225.1:n.*1262-71_*1262-67del
NM_005732.3:c.1636-71_1636-67del	NP_005723.2:n.1636-71_1636-67del
NM_005732.4:c.1636-71_1636-67del MANE Select	NP_005723.2:n.1636-71_1636-67del