Canonical Allele Identifier: CA265761318

Gene: UBR7

Linked Data

• dbSNP Id: rs1053221113
• gnomAD v2: 14-93684769-AT-A
• gnomAD v3: 14-93218423-AT-A
• gnomAD v4: 14-93218423-AT-A
• MyVariant Identifiers: chr14:g.93684770del (hg19) ; chr14:g.93218424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218424del , CM000676.2:g.93218424del	GRCh38
NC_000014.8:g.93684770del , CM000676.1:g.93684770del	GRCh37
NC_000014.7:g.92754523del	NCBI36
NG_051089.1:g.16369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.602-103del MANE Select	ENSP00000013070.6:n.602-103del
ENST00000013070.10:c.602-103del	ENSP00000013070.6:n.602-103del
ENST00000416753.5:c.374-103del	ENSP00000391706.2:n.374-103del
ENST00000553674.1:c.*303-103del	ENSP00000450470.1:n.*303-103del
ENST00000553857.5:c.378+3143del
ENST00000554232.5:c.506-103del	ENSP00000450645.1:n.506-103del
ENST00000556871.5:c.311-103del	ENSP00000451022.1:n.311-103del
ENST00000557048.1:n.511-103del
NM_175748.3:c.602-103del	NP_786924.2:n.602-103del
NR_038150.1:n.704-103del
NM_175748.4:c.602-103del MANE Select	NP_786924.2:n.602-103del
NR_038150.2:n.504-103del