Canonical Allele Identifier: CA2639833606

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516189-T-TGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516189_75516190insGAG , CM000679.2:g.75516189_75516190insGAG	GRCh38
NC_000017.10:g.73512270_73512271insGAG , CM000679.1:g.73512270_73512271insGAG	GRCh37
NC_000017.9:g.71023865_71023866insGAG	NCBI36
NG_013041.1:g.4662_4663insGAG
NG_033152.1:g.4394_4395insCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-280_-279insGAG	ENSP00000406559.4:n.-280_-279insGAG
ENST00000679370.1:n.246_247insGAG
ENST00000434205.7:c.-280_-279insGAG	ENSP00000406559.3:n.-280_-279insGAG
XM_006721821.2:c.-445_-444insGAG	XP_006721884.1:n.-445_-444insGAG