Canonical Allele Identifier: CA986330481

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053361993
• gnomAD v3: 17-75516214-AAGC-A
• gnomAD v4: 17-75516214-AAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516218_75516220del , CM000679.2:g.75516218_75516220del	GRCh38
NC_000017.10:g.73512299_73512301del , CM000679.1:g.73512299_73512301del	GRCh37
NC_000017.9:g.71023894_71023896del	NCBI36
NG_013041.1:g.4691_4693del
NG_033152.1:g.4367_4369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-251_-249del	ENSP00000406559.4:n.-251_-249del
ENST00000679370.1:n.275_277del
ENST00000434205.7:c.-251_-249del	ENSP00000406559.3:n.-251_-249del
XM_006721821.2:c.-416_-414del	XP_006721884.1:n.-416_-414del