Canonical Allele Identifier: CA2628084751
Gene: UBR1 HGNC NCBI

Linked Data

gnomAD v4: 15-43048325-TAA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048329_43048330del , CM000677.2:g.43048329_43048330del GRCh38
NC_000015.9:g.43340527_43340528del , CM000677.1:g.43340527_43340528del GRCh37
NC_000015.8:g.41127819_41127820del NCBI36
NG_012182.1:g.62762_62763del

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.1539+65_1539+66del MANE Select ENSP00000290650.4:n.1539+65_1539+66del
ENST00000290650.8:c.1539+65_1539+66del ENSP00000290650.4:n.1539+65_1539+66del
ENST00000546274.6:c.1539+65_1539+66del ENSP00000477932.1:n.1539+65_1539+66del
ENST00000563239.1:c.*203-1038_*203-1037del ENSP00000456502.1:n.*203-1038_*203-1037de...
ENST00000569971.5:c.410+65_410+66del ENSP00000455759.1:n.410+65_410+66del
NM_174916.2:c.1539+65_1539+66del NP_777576.1:n.1539+65_1539+66del
NM_174916.3:c.1539+65_1539+66del MANE Select NP_777576.1:n.1539+65_1539+66del
Search 100 bp 5'
Search 100 bp 3'