Canonical Allele Identifier: CA775072448
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1293188683
MyVariant Identifiers: chr17:g.73512308_73512309del (hg19) chr17:g.75516227_75516228del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516227_75516228del , CM000679.2:g.75516227_75516228del GRCh38
NC_000017.10:g.73512308_73512309del , CM000679.1:g.73512308_73512309del GRCh37
NC_000017.9:g.71023903_71023904del NCBI36
NG_013041.1:g.4700_4701del
NG_033152.1:g.4356_4357del

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-242_-241del ENSP00000406559.4:n.-242_-241del
ENST00000679370.1:n.284_285del
ENST00000434205.7:c.-242_-241del ENSP00000406559.3:n.-242_-241del
XM_006721821.2:c.-407_-406del XP_006721884.1:n.-407_-406del
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