Canonical Allele Identifier: CA2628084738
Gene: UBR1 HGNC NCBI

Linked Data

gnomAD v4: 15-43048294-TTC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43048296_43048297del , CM000677.2:g.43048296_43048297del GRCh38
NC_000015.9:g.43340494_43340495del , CM000677.1:g.43340494_43340495del GRCh37
NC_000015.8:g.41127786_41127787del NCBI36
NG_012182.1:g.62793_62794del

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.1539+96_1539+97del MANE Select ENSP00000290650.4:n.1539+96_1539+97del
ENST00000290650.8:c.1539+96_1539+97del ENSP00000290650.4:n.1539+96_1539+97del
ENST00000546274.6:c.1539+96_1539+97del ENSP00000477932.1:n.1539+96_1539+97del
ENST00000563239.1:c.*203-1007_*203-1006del ENSP00000456502.1:n.*203-1007_*203-1006de...
ENST00000569971.5:c.410+96_410+97del ENSP00000455759.1:n.410+96_410+97del
NM_174916.2:c.1539+96_1539+97del NP_777576.1:n.1539+96_1539+97del
NM_174916.3:c.1539+96_1539+97del MANE Select NP_777576.1:n.1539+96_1539+97del
Search 100 bp 5'
Search 100 bp 3'