Canonical Allele Identifier: CA2802634124
Gene: UBR7 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218662_93218667del , CM000676.2:g.93218662_93218667del GRCh38
NC_000014.8:g.93685008_93685013del , CM000676.1:g.93685008_93685013del GRCh37
NC_000014.7:g.92754761_92754766del NCBI36
NG_051089.1:g.16607_16612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.737_742del MANE Select ENSP00000013070.6:p.Asp246_Asp247del
ENST00000013070.10:c.737_742del ENSP00000013070.6:p.Asp246_Asp247del
ENST00000416753.5:c.509_514del ENSP00000391706.2:p.Asp170_Asp171del
ENST00000553674.1:c.*438_*443del ENSP00000450470.1:n.*438_*443del
ENST00000553857.5:c.378+3381_378+3386del
ENST00000556871.5:c.446_451del ENSP00000451022.1:p.Asp149_Asp150del
NM_175748.3:c.737_742del NP_786924.2:p.Asp246_Asp247del
NR_038150.1:n.839_844del
NM_175748.4:c.737_742del MANE Select NP_786924.2:p.Asp246_Asp247del
NR_038150.2:n.639_644del
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