Canonical Allele Identifier: CA2628078406
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs2141253479
gnomAD v4: 15-42958174-TA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42958179del , CM000677.2:g.42958179del GRCh38
NC_000015.9:g.43250377del , CM000677.1:g.43250377del GRCh37
NC_000015.8:g.41037669del NCBI36
NG_012182.1:g.152914del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4758-85del MANE Select ENSP00000290650.4:n.4758-85del
ENST00000290650.8:c.4758-85del ENSP00000290650.4:n.4758-85del
NM_174916.2:c.4758-85del NP_777576.1:n.4758-85del
NM_174916.3:c.4758-85del MANE Select NP_777576.1:n.4758-85del
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