Canonical Allele Identifier: CA2675216823

Gene: RAD50

Linked Data

• gnomAD v4: 5-132588620-A-ATC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588622_132588623dup , CM000667.2:g.132588622_132588623dup	GRCh38
NC_000005.9:g.131924314_131924315dup , CM000667.1:g.131924314_131924315dup	GRCh37
NC_000005.8:g.131952213_131952214dup	NCBI36
NG_021151.1:g.36699_36700dup
NG_021151.2:g.36646_36647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1052-65_1052-64dup MANE Select	ENSP00000368100.4:n.1052-65_1052-64dup
ENST00000638452.2:c.755-65_755-64dup	ENSP00000492349.2:n.755-65_755-64dup
ENST00000638504.1:n.738-65_738-64dup
ENST00000638568.2:c.755-65_755-64dup	ENSP00000491158.2:n.755-65_755-64dup
ENST00000639899.1:n.1571-65_1571-64dup
ENST00000640655.2:c.755-65_755-64dup	ENSP00000491596.2:n.755-65_755-64dup
ENST00000651160.1:c.1052-65_1052-64dup	ENSP00000498829.1:n.1052-65_1052-64dup
ENST00000651541.1:c.755-65_755-64dup	ENSP00000498795.1:n.755-65_755-64dup
ENST00000651658.1:n.1479-65_1479-64dup
ENST00000651723.1:c.*1135-65_*1135-64dup	ENSP00000498237.1:n.*1135-65_*1135-64dup
ENST00000652016.1:c.1052-65_1052-64dup	ENSP00000498267.1:n.1052-65_1052-64dup
ENST00000652485.1:c.1052-65_1052-64dup	ENSP00000498973.1:n.1052-65_1052-64dup
ENST00000378823.7:c.1052-65_1052-64dup	ENSP00000368100.4:n.1052-65_1052-64dup
ENST00000423956.5:c.1052-65_1052-64dup	ENSP00000390971.1:n.1052-65_1052-64dup
ENST00000453394.5:c.1052-65_1052-64dup	ENSP00000400049.1:n.1052-65_1052-64dup
ENST00000487596.1:n.618-65_618-64dup
ENST00000533482.5:c.*678-65_*678-64dup	ENSP00000431225.1:n.*678-65_*678-64dup
NM_005732.3:c.1052-65_1052-64dup	NP_005723.2:n.1052-65_1052-64dup
NM_005732.4:c.1052-65_1052-64dup MANE Select	NP_005723.2:n.1052-65_1052-64dup