Canonical Allele Identifier: CA294075259

Gene: TSEN54

Linked Data

• dbSNP Id: rs985595466
• gnomAD v2: 17-73512385-G-GC
• gnomAD v3: 17-75516304-G-GC
• gnomAD v4: 17-75516304-G-GC
• MyVariant Identifiers: chr17:g.73512385_73512386insC (hg19) ; chr17:g.75516304_75516305insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516308dup , CM000679.2:g.75516308dup	GRCh38
NC_000017.10:g.73512389dup , CM000679.1:g.73512389dup	GRCh37
NC_000017.9:g.71023984dup	NCBI36
NG_013041.1:g.4781dup
NG_033152.1:g.4279dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-161dup	ENSP00000406559.4:n.-161dup
ENST00000679370.1:n.365dup
ENST00000434205.7:c.-161dup	ENSP00000406559.3:n.-161dup
XM_006721821.2:c.-326dup	XP_006721884.1:n.-326dup