Canonical Allele Identifier: CA2275548085

Gene: TSEN54

Linked Data

• dbSNP Id: rs2053361624
• gnomAD v3: 17-75516169-CCT-C
• gnomAD v4: 17-75516169-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75516170_75516171del , CM000679.2:g.75516170_75516171del	GRCh38
NC_000017.10:g.73512251_73512252del , CM000679.1:g.73512251_73512252del	GRCh37
NC_000017.9:g.71023846_71023847del	NCBI36
NG_013041.1:g.4643_4644del
NG_033152.1:g.4413_4414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434205.8:c.-299_-298del	ENSP00000406559.4:n.-299_-298del
ENST00000679370.1:n.227_228del
ENST00000434205.7:c.-299_-298del	ENSP00000406559.3:n.-299_-298del
XM_006721821.2:c.-464_-463del	XP_006721884.1:n.-464_-463del