Canonical Allele Identifier: CA775072396
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1240935475
MyVariant Identifiers: chr17:g.73512197del (hg19) chr17:g.75516116del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516118del , CM000679.2:g.75516118del GRCh38
NC_000017.10:g.73512199del , CM000679.1:g.73512199del GRCh37
NC_000017.9:g.71023794del NCBI36
NG_013041.1:g.4591del
NG_033152.1:g.4468del

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-351del ENSP00000406559.4:n.-351del
ENST00000679370.1:n.175del
ENST00000434205.7:c.-351del ENSP00000406559.3:n.-351del
XM_006721821.2:c.-516del XP_006721884.1:n.-516del
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