Canonical Allele Identifier: CA2639834909

Gene: TSEN54

Linked Data

• gnomAD v4: 17-75516451-TGCAGGGGGCGGGGCTGCCGCGGCATTGCGGATCGGCGGGCACTAGGGCAGCGCGGAGCTCCGGCGGTGGGCGGGGCGTGGCGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516454_75516537del , CM000679.2:g.75516454_75516537del	GRCh38
NC_000017.10:g.73512535_73512618del , CM000679.1:g.73512535_73512618del	GRCh37
NC_000017.9:g.71024130_71024213del	NCBI36
NG_013041.1:g.4927_5010del
NG_033152.1:g.4049_4132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-83+68_-83+151del	ENSP00000406559.4:n.-83+68_-83+151del
ENST00000679370.1:n.443+68_443+151del
ENST00000434205.7:c.-83+68_-83+151del	ENSP00000406559.3:n.-83+68_-83+151del
XM_006721821.2:c.-248+68_-248+151del	XP_006721884.1:n.-248+68_-248+151del