Canonical Allele Identifier: CA2578402417

Gene: RAD50

Linked Data

• gnomAD v4: 5-132556905-A-ACGCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556909_132556913dup , CM000667.2:g.132556909_132556913dup	GRCh38
NC_000005.9:g.131892601_131892605dup , CM000667.1:g.131892601_131892605dup	GRCh37
NC_000005.8:g.131920500_131920504dup	NCBI36
NG_021151.1:g.4986_4990dup
NG_021151.2:g.4933_4937dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2375_-168-2371dup	ENSP00000492349.2:n.-168-2375_-168-2371dup
ENST00000638504.1:n.207-2375_207-2371dup
ENST00000638568.2:c.-169+436_-169+440dup	ENSP00000491158.2:n.-169+436_-169+440dup
ENST00000639899.1:n.290-2375_290-2371dup
ENST00000640655.2:c.-168-2375_-168-2371dup	ENSP00000491596.2:n.-168-2375_-168-2371dup
ENST00000416135.5:c.-169+436_-169+440dup	ENSP00000389515.1:n.-169+436_-169+440dup