Canonical Allele Identifier: CA2675215419

Gene: RAD50

Linked Data

• gnomAD v4: 5-132556917-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556920_132556921del , CM000667.2:g.132556920_132556921del	GRCh38
NC_000005.9:g.131892612_131892613del , CM000667.1:g.131892612_131892613del	GRCh37
NC_000005.8:g.131920511_131920512del	NCBI36
NG_021151.1:g.4997_4998del
NG_021151.2:g.4944_4945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2364_-168-2363del	ENSP00000492349.2:n.-168-2364_-168-2363del
ENST00000638504.1:n.207-2364_207-2363del
ENST00000638568.2:c.-169+447_-169+448del	ENSP00000491158.2:n.-169+447_-169+448del
ENST00000639899.1:n.290-2364_290-2363del
ENST00000640655.2:c.-168-2364_-168-2363del	ENSP00000491596.2:n.-168-2364_-168-2363del
ENST00000416135.5:c.-169+447_-169+448del	ENSP00000389515.1:n.-169+447_-169+448del