Canonical Allele Identifier: CA269934101

Gene: UBR1

Linked Data

• dbSNP Id: rs939966157
• gnomAD v3: 15-42957906-CAAACAAAA-C
• gnomAD v4: 15-42957906-CAAACAAAA-C
• MyVariant Identifiers: chr15:g.43250105_43250112del (hg19) ; chr15:g.42957907_42957914del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42957916_42957923del , CM000677.2:g.42957916_42957923del	GRCh38
NC_000015.9:g.43250114_43250121del , CM000677.1:g.43250114_43250121del	GRCh37
NC_000015.8:g.41037406_41037413del	NCBI36
NG_012182.1:g.153175_153182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290650.9:c.4835+99_4835+106del MANE Select	ENSP00000290650.4:n.4835+99_4835+106del
ENST00000290650.8:c.4835+99_4835+106del	ENSP00000290650.4:n.4835+99_4835+106del
NM_174916.2:c.4835+99_4835+106del	NP_777576.1:n.4835+99_4835+106del
NM_174916.3:c.4835+99_4835+106del MANE Select	NP_777576.1:n.4835+99_4835+106del