Canonical Allele Identifier: CA2675216221

Gene: RAD50

Linked Data

• gnomAD v4: 5-132576029-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132576036dup , CM000667.2:g.132576036dup	GRCh38
NC_000005.9:g.131911728dup , CM000667.1:g.131911728dup	GRCh37
NC_000005.8:g.131939627dup	NCBI36
NG_021151.1:g.24113dup
NG_021151.2:g.24060dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.365+108dup MANE Select	ENSP00000368100.4:n.365+108dup
ENST00000638452.2:c.68+108dup	ENSP00000492349.2:n.68+108dup
ENST00000638504.1:n.442+108dup
ENST00000638568.2:c.68+108dup	ENSP00000491158.2:n.68+108dup
ENST00000639899.1:n.525+108dup
ENST00000640655.2:c.68+108dup	ENSP00000491596.2:n.68+108dup
ENST00000651160.1:c.365+108dup	ENSP00000498829.1:n.365+108dup
ENST00000651541.1:c.68+108dup	ENSP00000498795.1:n.68+108dup
ENST00000651658.1:n.433+108dup
ENST00000651723.1:c.*448+173dup	ENSP00000498237.1:n.*448+173dup
ENST00000652016.1:c.365+108dup	ENSP00000498267.1:n.365+108dup
ENST00000652485.1:c.365+108dup	ENSP00000498973.1:n.365+108dup
ENST00000378823.7:c.365+108dup	ENSP00000368100.4:n.365+108dup
ENST00000416135.5:c.68+108dup	ENSP00000389515.1:n.68+108dup
ENST00000423956.5:c.365+108dup	ENSP00000390971.1:n.365+108dup
ENST00000453394.5:c.365+108dup	ENSP00000400049.1:n.365+108dup
ENST00000533482.5:c.300+173dup	ENSP00000431225.1:n.300+173dup
NM_005732.3:c.365+108dup	NP_005723.2:n.365+108dup
NM_005732.4:c.365+108dup MANE Select	NP_005723.2:n.365+108dup