Canonical Allele Identifier: CA919480347
Gene: UBR7 HGNC NCBI

Linked Data

dbSNP Id: rs1595268212

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218682_93218683insAAA , CM000676.2:g.93218682_93218683insAAA GRCh38
NC_000014.8:g.93685028_93685029insAAA , CM000676.1:g.93685028_93685029insAAA GRCh37
NC_000014.7:g.92754781_92754782insAAA NCBI36
NG_051089.1:g.16627_16628insAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.757_758insAAA MANE Select ENSP00000013070.6:p.Val253delinsGluIle
ENST00000013070.10:c.757_758insAAA ENSP00000013070.6:p.Val253delinsGluIle
ENST00000416753.5:c.529_530insAAA ENSP00000391706.2:p.Val177delinsGluIle
ENST00000553674.1:c.*458_*459insAAA ENSP00000450470.1:n.*458_*459insAAA
ENST00000553857.5:c.378+3401_378+3402insAAA
ENST00000555329.1:c.2_3insAAA
NM_175748.3:c.757_758insAAA NP_786924.2:p.Val253delinsGluIle
NR_038150.1:n.859_860insAAA
NM_175748.4:c.757_758insAAA MANE Select NP_786924.2:p.Val253delinsGluIle
NR_038150.2:n.659_660insAAA