Canonical Allele Identifier: CA775072597

Gene: TSEN54

Linked Data

• dbSNP Id: rs1227084439
• gnomAD v4: 17-75516518-T-TGGGCG
• MyVariant Identifiers: chr17:g.73512599_73512600insGGGCG (hg19) ; chr17:g.75516518_75516519insGGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516524_75516528dup , CM000679.2:g.75516524_75516528dup	GRCh38
NC_000017.10:g.73512605_73512609dup , CM000679.1:g.73512605_73512609dup	GRCh37
NC_000017.9:g.71024200_71024204dup	NCBI36
NG_013041.1:g.4997_5001dup
NG_033152.1:g.4061_4065dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-83+138_-83+142dup	ENSP00000406559.4:n.-83+138_-83+142dup
ENST00000679370.1:n.443+138_443+142dup
ENST00000434205.7:c.-83+138_-83+142dup	ENSP00000406559.3:n.-83+138_-83+142dup
XM_006721821.2:c.-248+138_-248+142dup	XP_006721884.1:n.-248+138_-248+142dup
XM_005257229.4:c.-37_-33dup	XP_005257286.1:n.-37_-33dup