Canonical Allele Identifier: CA2639834604

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516396-C-CGGGCGGGCGCTAGGACCG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516400_75516417dup , CM000679.2:g.75516400_75516417dup	GRCh38
NC_000017.10:g.73512481_73512498dup , CM000679.1:g.73512481_73512498dup	GRCh37
NC_000017.9:g.71024076_71024093dup	NCBI36
NG_013041.1:g.4873_4890dup
NG_033152.1:g.4170_4187dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-83+14_-83+31dup	ENSP00000406559.4:n.-83+14_-83+31dup
ENST00000679370.1:n.443+14_443+31dup
ENST00000434205.7:c.-83+14_-83+31dup	ENSP00000406559.3:n.-83+14_-83+31dup
XM_006721821.2:c.-248+14_-248+31dup	XP_006721884.1:n.-248+14_-248+31dup