Canonical Allele Identifier: CA775072392
Gene: TSEN54 HGNC NCBI

Linked Data

dbSNP Id: rs1183730509
gnomAD v4: 17-75516112-TC-T
MyVariant Identifiers: chr17:g.73512194del (hg19) chr17:g.75516113del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75516115del , CM000679.2:g.75516115del GRCh38
NC_000017.10:g.73512196del , CM000679.1:g.73512196del GRCh37
NC_000017.9:g.71023791del NCBI36
NG_013041.1:g.4588del
NG_033152.1:g.4471del

Transcript Alleles

HGVS Amino-acid Change
ENST00000434205.8:c.-354del ENSP00000406559.4:n.-354del
ENST00000679370.1:n.172del
ENST00000434205.7:c.-354del ENSP00000406559.3:n.-354del
XM_006721821.2:c.-519del XP_006721884.1:n.-519del
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