Canonical Allele Identifier: CA710048139

Gene: UBR7

Linked Data

• dbSNP Id: rs1244019617
• gnomAD v3: 14-93218401-ACT-A
• gnomAD v4: 14-93218401-ACT-A
• MyVariant Identifiers: chr14:g.93218402_93218403del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.93218404_93218405del , CM000676.2:g.93218404_93218405del	GRCh38
NC_000014.8:g.93684750_93684751del , CM000676.1:g.93684750_93684751del	GRCh37
NC_000014.7:g.92754503_92754504del	NCBI36
NG_051089.1:g.16349_16350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000013070.11:c.602-123_602-122del MANE Select	ENSP00000013070.6:n.602-123_602-122del
ENST00000013070.10:c.602-123_602-122del	ENSP00000013070.6:n.602-123_602-122del
ENST00000416753.5:c.374-123_374-122del	ENSP00000391706.2:n.374-123_374-122del
ENST00000553674.1:c.*303-123_*303-122del	ENSP00000450470.1:n.*303-123_*303-122del
ENST00000553857.5:c.378+3123_378+3124del
ENST00000554232.5:c.506-123_506-122del	ENSP00000450645.1:n.506-123_506-122del
ENST00000556871.5:c.311-123_311-122del	ENSP00000451022.1:n.311-123_311-122del
ENST00000557048.1:n.511-123_511-122del
NM_175748.3:c.602-123_602-122del	NP_786924.2:n.602-123_602-122del
NR_038150.1:n.704-123_704-122del
NM_175748.4:c.602-123_602-122del MANE Select	NP_786924.2:n.602-123_602-122del
NR_038150.2:n.504-123_504-122del