Canonical Allele Identifier: CA2628078385
Gene: UBR1 HGNC NCBI

Linked Data

gnomAD v4: 15-42958162-AGAAGAAT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958164_42958170del , CM000677.2:g.42958164_42958170del GRCh38
NC_000015.9:g.43250362_43250368del , CM000677.1:g.43250362_43250368del GRCh37
NC_000015.8:g.41037654_41037660del NCBI36
NG_012182.1:g.152920_152926del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4758-79_4758-73del MANE Select ENSP00000290650.4:n.4758-79_4758-73del
ENST00000290650.8:c.4758-79_4758-73del ENSP00000290650.4:n.4758-79_4758-73del
NM_174916.2:c.4758-79_4758-73del NP_777576.1:n.4758-79_4758-73del
NM_174916.3:c.4758-79_4758-73del MANE Select NP_777576.1:n.4758-79_4758-73del
Search 100 bp 5'
Search 100 bp 3'