Canonical Allele Identifier: CA712977096

Gene: UBR1

Linked Data

• dbSNP Id: rs1462166573
• gnomAD v3: 15-42958171-T-TC
• gnomAD v4: 15-42958171-T-TC
• MyVariant Identifiers: chr15:g.43250369_43250370insC (hg19) ; chr15:g.42958171_42958172insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42958172dup , CM000677.2:g.42958172dup	GRCh38
NC_000015.9:g.43250370dup , CM000677.1:g.43250370dup	GRCh37
NC_000015.8:g.41037662dup	NCBI36
NG_012182.1:g.152917dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290650.9:c.4758-82dup MANE Select	ENSP00000290650.4:n.4758-82dup
ENST00000290650.8:c.4758-82dup	ENSP00000290650.4:n.4758-82dup
NM_174916.2:c.4758-82dup	NP_777576.1:n.4758-82dup
NM_174916.3:c.4758-82dup MANE Select	NP_777576.1:n.4758-82dup