Canonical Allele Identifier: CA265761292

Gene: UBR7

Linked Data

• dbSNP Id: rs948394957
• gnomAD v3: 14-93218402-CTCTG-C
• gnomAD v4: 14-93218402-CTCTG-C
• MyVariant Identifiers: chr14:g.93684749_93684752del (hg19) ; chr14:g.93218403_93218406del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218408_93218411del , CM000676.2:g.93218408_93218411del	GRCh38
NC_000014.8:g.93684754_93684757del , CM000676.1:g.93684754_93684757del	GRCh37
NC_000014.7:g.92754507_92754510del	NCBI36
NG_051089.1:g.16353_16356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.602-119_602-116del MANE Select	ENSP00000013070.6:n.602-119_602-116del
ENST00000013070.10:c.602-119_602-116del	ENSP00000013070.6:n.602-119_602-116del
ENST00000416753.5:c.374-119_374-116del	ENSP00000391706.2:n.374-119_374-116del
ENST00000553674.1:c.*303-119_*303-116del	ENSP00000450470.1:n.*303-119_*303-116del
ENST00000553857.5:c.378+3127_378+3130del
ENST00000554232.5:c.506-119_506-116del	ENSP00000450645.1:n.506-119_506-116del
ENST00000556871.5:c.311-119_311-116del	ENSP00000451022.1:n.311-119_311-116del
ENST00000557048.1:n.511-119_511-116del
NM_175748.3:c.602-119_602-116del	NP_786924.2:n.602-119_602-116del
NR_038150.1:n.704-119_704-116del
NM_175748.4:c.602-119_602-116del MANE Select	NP_786924.2:n.602-119_602-116del
NR_038150.2:n.504-119_504-116del