Canonical Allele Identifier: CA658821345

Gene: RAD21 UTP23

Linked Data

• ClinVar Variation Id: 545121
• ClinVar RCV Id: RCV000680272
• dbSNP Id: rs1563686762
• MyVariant Identifiers: chr8:g.117859859_117859861del (hg19) ; chr8:g.116847620_116847622del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.116847622_116847624del , CM000670.2:g.116847622_116847624del	GRCh38
NC_000008.10:g.117859861_117859863del , CM000670.1:g.117859861_117859863del	GRCh37
NC_000008.9:g.117929042_117929044del	NCBI36
NG_032862.1:g.32245_32247del , LRG_772:g.32245_32247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000517485.6:c.1774_1776del (RAD21)	ENSP00000427923.2:p.Gln592del
ENST00000517749.2:c.1774_1776del (RAD21)	ENSP00000430273.2:p.Gln592del
ENST00000519837.6:c.1774_1776del (RAD21)	ENSP00000430524.2:p.Gln592del
ENST00000520992.6:c.1774_1776del (RAD21)	ENSP00000429342.2:p.Gln592del
ENST00000522699.2:c.1774_1776del (RAD21)	ENSP00000428158.2:p.Gln592del
ENST00000523986.6:n.4743_4745del (RAD21)
ENST00000685972.1:n.5077_5079del (RAD21)
ENST00000687122.1:n.4602_4604del (RAD21)
ENST00000687358.1:c.1774_1776del (RAD21)	ENSP00000509687.1:p.Gln592del
ENST00000687902.1:c.*149_*151del (RAD21)	ENSP00000510729.1:n.*149_*151del
ENST00000689124.1:n.1988_1990del (RAD21)
ENST00000689154.1:n.1666_1668del (RAD21)
ENST00000690166.1:n.6643_6645del (RAD21)
ENST00000297338.7:c.1774_1776del (RAD21) MANE Select	ENSP00000297338.2:p.Gln592del
ENST00000297338.6:c.1774_1776del (RAD21)	ENSP00000297338.2:p.Gln592del
ENST00000517749.1:c.88_90del (RAD21)	ENSP00000430273.1:p.Gln30del
ENST00000517820.1:c.189-1266_189-1264del (UTP23)	ENSP00000427767.1:n.189-1266_189-1264del
ENST00000518055.1:c.409_411del (RAD21)	ENSP00000428003.1:p.Gln137del
ENST00000520733.5:c.46-1266_46-1264del (UTP23)	ENSP00000429384.1:n.46-1266_46-1264del
ENST00000521703.5:c.*93-1266_*93-1264del (UTP23)	ENSP00000428455.1:n.*93-1266_*93-1264del
ENST00000523986.5:c.286_288del (RAD21)	ENSP00000428513.1:p.Gln96del
ENST00000524128.1:c.*93-1266_*93-1264del (UTP23)	ENSP00000430309.1:n.*93-1266_*93-1264del
NM_006265.2:c.1774_1776del , LRG_772t1:c.1774_1776del (RAD21)	NP_006256.1:p.Gln592del
XR_928356.1:n.663-1266_663-1264del (UTP23)
NM_006265.3:c.1774_1776del (RAD21) MANE Select	NP_006256.1:p.Gln592del