Canonical Allele Identifier: CA775072411

Gene: TSEN54

Linked Data

• dbSNP Id: rs1336376238
• gnomAD v3: 17-75516163-TCCTTCCCTGAGC-T
• gnomAD v4: 17-75516163-TCCTTCCCTGAGC-T
• MyVariant Identifiers: chr17:g.73512245_73512256del (hg19) ; chr17:g.75516164_75516175del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516169_75516180del , CM000679.2:g.75516169_75516180del	GRCh38
NC_000017.10:g.73512250_73512261del , CM000679.1:g.73512250_73512261del	GRCh37
NC_000017.9:g.71023845_71023856del	NCBI36
NG_013041.1:g.4642_4653del
NG_033152.1:g.4409_4420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-300_-289del	ENSP00000406559.4:n.-300_-289del
ENST00000679370.1:n.226_237del
ENST00000434205.7:c.-300_-289del	ENSP00000406559.3:n.-300_-289del
XM_006721821.2:c.-465_-454del	XP_006721884.1:n.-465_-454del