Canonical Allele Identifier: CA2275548092
Gene: TSEN54 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516179_75516187delinsTCTGCCCTC , CM000679.2:g.75516179_75516187delinsTCTGCCCTC GRCh38
NC_000017.10:g.73512260_73512268delinsTCTGCCCTC , CM000679.1:g.73512260_73512268delinsTCTGCCCTC GRCh37
NC_000017.9:g.71023855_71023863delinsTCTGCCCTC NCBI36
NG_013041.1:g.4652_4660delinsTCTGCCCTC
NG_033152.1:g.4397_4405delinsGAGGGCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-290_-282delinsTCTGCCCTC ENSP00000406559.4:n.-290_-282delinsTCTGCCCTC
ENST00000679370.1:n.236_244delinsTCTGCCCTC
ENST00000434205.7:c.-290_-282delinsTCTGCCCTC ENSP00000406559.3:n.-290_-282delinsTCTGCCCTC
XM_006721821.2:c.-455_-447delinsTCTGCCCTC XP_006721884.1:n.-455_-447delinsTCTGCCCTC