Canonical Allele Identifier: CA2514736765
Gene: UBR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218734_93218735insTTTTCA , CM000676.2:g.93218734_93218735insTTTTCA GRCh38
NC_000014.8:g.93685080_93685081insTTTTCA , CM000676.1:g.93685080_93685081insTTTTCA GRCh37
NC_000014.7:g.92754833_92754834insTTTTCA NCBI36
NG_051089.1:g.16679_16680insTTTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000013070.11:c.809_810insTTTTCA MANE Select ENSP00000013070.6:p.Leu269_Gln270insHisPhe
ENST00000013070.10:c.809_810insTTTTCA ENSP00000013070.6:p.Leu269_Gln270insHisPhe
ENST00000416753.5:c.581_582insTTTTCA ENSP00000391706.2:p.Leu193_Gln194insHisPhe
ENST00000553674.1:c.*510_*511insTTTTCA ENSP00000450470.1:n.*510_*511insTTTTCA
ENST00000553857.5:c.378+3453_378+3454insTTTTCA
ENST00000555329.1:c.54_55insTTTTCA
NM_175748.3:c.809_810insTTTTCA NP_786924.2:p.Leu269_Gln270insHisPhe
NR_038150.1:n.911_912insTTTTCA
NM_175748.4:c.809_810insTTTTCA MANE Select NP_786924.2:p.Leu269_Gln270insHisPhe
NR_038150.2:n.711_712insTTTTCA