Canonical Allele Identifier: CA2628093610
Gene: UBR1 HGNC NCBI

Linked Data

gnomAD v4: 15-43067925-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43067926del , CM000677.2:g.43067926del GRCh38
NC_000015.9:g.43360124del , CM000677.1:g.43360124del GRCh37
NC_000015.8:g.41147416del NCBI36
NG_012182.1:g.43163del

Transcript Alleles

HGVS Amino-acid change
ENST00000290650.9:c.770del MANE Select ENSP00000290650.4:p.Gln257ArgfsTer30
ENST00000290650.8:c.770del ENSP00000290650.4:p.Gln257ArgfsTer30
ENST00000546274.6:c.770del ENSP00000477932.1:p.Gln257ArgfsTer30
ENST00000563239.1:c.*202+2973del ENSP00000456502.1:n.*202+2973del
NM_174916.2:c.770del NP_777576.1:p.Gln257ArgfsTer30
NM_174916.3:c.770del MANE Select NP_777576.1:p.Gln257ArgfsTer30
Search 100 bp 5'
Search 100 bp 3'