Canonical Allele Identifier: CA2675215683

Gene: RAD50

Linked Data

• gnomAD v4: 5-132557094-TCCCCACCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557095_132557102del , CM000667.2:g.132557095_132557102del	GRCh38
NC_000005.9:g.131892787_131892794del , CM000667.1:g.131892787_131892794del	GRCh37
NC_000005.8:g.131920686_131920693del	NCBI36
NG_021151.1:g.5172_5179del
NG_021151.2:g.5119_5126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-230_-223del MANE Select	ENSP00000368100.4:n.-230_-223del
ENST00000638452.2:c.-168-2189_-168-2182del	ENSP00000492349.2:n.-168-2189_-168-2182del
ENST00000638504.1:n.207-2189_207-2182del
ENST00000638568.2:c.-169+622_-169+629del	ENSP00000491158.2:n.-169+622_-169+629del
ENST00000639899.1:n.290-2189_290-2182del
ENST00000640655.2:c.-168-2189_-168-2182del	ENSP00000491596.2:n.-168-2189_-168-2182del
ENST00000651160.1:c.-230_-223del	ENSP00000498829.1:n.-230_-223del
ENST00000651541.1:c.-169+86_-169+93del	ENSP00000498795.1:n.-169+86_-169+93del
ENST00000652016.1:c.-230_-223del	ENSP00000498267.1:n.-230_-223del
ENST00000652485.1:c.-230_-223del	ENSP00000498973.1:n.-230_-223del
ENST00000378823.7:c.-230_-223del	ENSP00000368100.4:n.-230_-223del
ENST00000416135.5:c.-169+622_-169+629del	ENSP00000389515.1:n.-169+622_-169+629del
ENST00000533482.5:c.-230_-223del	ENSP00000431225.1:n.-230_-223del
NM_005732.3:c.-230_-223del	NP_005723.2:n.-230_-223del
NM_005732.4:c.-230_-223del MANE Select	NP_005723.2:n.-230_-223del