Canonical Allele Identifier: CA710048146

Gene: UBR7

Linked Data

• dbSNP Id: rs1385218615
• gnomAD v3: 14-93218404-C-CT
• gnomAD v4: 14-93218404-C-CT
• MyVariant Identifiers: chr14:g.93218404_93218405insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218405dup , CM000676.2:g.93218405dup	GRCh38
NC_000014.8:g.93684751dup , CM000676.1:g.93684751dup	GRCh37
NC_000014.7:g.92754504dup	NCBI36
NG_051089.1:g.16350dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.602-122dup MANE Select	ENSP00000013070.6:n.602-122dup
ENST00000013070.10:c.602-122dup	ENSP00000013070.6:n.602-122dup
ENST00000416753.5:c.374-122dup	ENSP00000391706.2:n.374-122dup
ENST00000553674.1:c.*303-122dup	ENSP00000450470.1:n.*303-122dup
ENST00000553857.5:c.378+3124dup
ENST00000554232.5:c.506-122dup	ENSP00000450645.1:n.506-122dup
ENST00000556871.5:c.311-122dup	ENSP00000451022.1:n.311-122dup
ENST00000557048.1:n.511-122dup
NM_175748.3:c.602-122dup	NP_786924.2:n.602-122dup
NR_038150.1:n.704-122dup
NM_175748.4:c.602-122dup MANE Select	NP_786924.2:n.602-122dup
NR_038150.2:n.504-122dup