Canonical Allele Identifier: CA2639833746

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516226-G-GAGCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516226_75516227insAGCGC , CM000679.2:g.75516226_75516227insAGCGC	GRCh38
NC_000017.10:g.73512307_73512308insAGCGC , CM000679.1:g.73512307_73512308insAGCGC	GRCh37
NC_000017.9:g.71023902_71023903insAGCGC	NCBI36
NG_013041.1:g.4699_4700insAGCGC
NG_033152.1:g.4357_4358insGCGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-243_-242insAGCGC	ENSP00000406559.4:n.-243_-242insAGCGC
ENST00000679370.1:n.283_284insAGCGC
ENST00000434205.7:c.-243_-242insAGCGC	ENSP00000406559.3:n.-243_-242insAGCGC
XM_006721821.2:c.-408_-407insAGCGC	XP_006721884.1:n.-408_-407insAGCGC