Canonical Allele Identifier: CA127253428

Gene: RAD50

Linked Data

• dbSNP Id: rs1028146256
• gnomAD v4: 5-132556920-C-CT
• MyVariant Identifiers: chr5:g.131892612_131892613insT (hg19) ; chr5:g.132556920_132556921insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556921dup , CM000667.2:g.132556921dup	GRCh38
NC_000005.9:g.131892613dup , CM000667.1:g.131892613dup	GRCh37
NC_000005.8:g.131920512dup	NCBI36
NG_021151.1:g.4998dup
NG_021151.2:g.4945dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2363dup	ENSP00000492349.2:n.-168-2363dup
ENST00000638504.1:n.207-2363dup
ENST00000638568.2:c.-169+448dup	ENSP00000491158.2:n.-169+448dup
ENST00000639899.1:n.290-2363dup
ENST00000640655.2:c.-168-2363dup	ENSP00000491596.2:n.-168-2363dup
ENST00000416135.5:c.-169+448dup	ENSP00000389515.1:n.-169+448dup