Canonical Allele Identifier: CA712976903
Gene: UBR1 HGNC NCBI

Linked Data

dbSNP Id: rs1190222785
gnomAD v4: 15-42957910-CA-C
MyVariant Identifiers: chr15:g.43250109del (hg19) chr15:g.42957911del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.42957917del , CM000677.2:g.42957917del GRCh38
NC_000015.9:g.43250115del , CM000677.1:g.43250115del GRCh37
NC_000015.8:g.41037407del NCBI36
NG_012182.1:g.153178del

Transcript Alleles

HGVS Amino-acid Change
ENST00000290650.9:c.4835+102del MANE Select ENSP00000290650.4:n.4835+102del
ENST00000290650.8:c.4835+102del ENSP00000290650.4:n.4835+102del
NM_174916.2:c.4835+102del NP_777576.1:n.4835+102del
NM_174916.3:c.4835+102del MANE Select NP_777576.1:n.4835+102del
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