Canonical Allele Identifier: CA2697554811
Gene: CDC73 HGNC NCBI

Linked Data

ClinVar Variation Id: 2709752
ClinVar RCV Id: RCV003501293

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193203862_193203863del , CM000663.2:g.193203862_193203863del GRCh38
NC_000001.10:g.193172992_193172993del , CM000663.1:g.193172992_193172993del GRCh37
NC_000001.9:g.191439615_191439616del NCBI36
NG_012691.1:g.86905_86906del , LRG_507:g.86905_86906del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367435.5:c.1030+10_1030+11del MANE Select ENSP00000356405.4:n.1030+10_1030+11del
ENST00000635846.1:c.787+10_787+11del ENSP00000490035.1:n.787+10_787+11del
ENST00000643006.1:c.1098+10_1098+11del ENSP00000496633.1:n.1098+10_1098+11del
ENST00000648071.1:c.*1006+10_*1006+11del ENSP00000497513.1:n.*1006+10_*1006+11del
ENST00000649613.1:n.280+10_280+11del
ENST00000649895.1:n.1248+10_1248+11del
ENST00000650197.1:c.1030+10_1030+11del ENSP00000496929.1:n.1030+10_1030+11del
ENST00000367435.3:c.1030+10_1030+11del ENSP00000356405.3:n.1030+10_1030+11del
NM_024529.4:c.1030+10_1030+11del , LRG_507t1:c.1030+10_1030+11del NP_078805.3:n.1030+10_1030+11del
NM_024529.5:c.1030+10_1030+11del MANE Select NP_078805.3:n.1030+10_1030+11del