Canonical Allele Identifier: CA627594384

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 2763079
• ClinVar RCV Id: RCV003564955
• dbSNP Id: rs1568003197
• gnomAD v2: 17-73517857-CT-C
• gnomAD v4: 17-75521776-CT-C
• MyVariant Identifiers: chr17:g.73517858del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521777del , CM000679.2:g.75521777del	GRCh38
NC_000017.10:g.73517858del , CM000679.1:g.73517858del	GRCh37
NC_000017.9:g.71029453del	NCBI36
NG_013041.1:g.10250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.696del MANE Select	ENSP00000327487.6:p.Cys234AlafsTer18
ENST00000434205.8:c.393del	ENSP00000406559.4:p.Cys133AlafsTer18
ENST00000545228.3:c.696del	ENSP00000438169.3:p.Cys234AlafsTer18
ENST00000579449.2:n.495del
ENST00000580013.6:n.899del
ENST00000583818.2:c.750del	ENSP00000461928.2:n.750del
ENST00000679370.1:n.1277del
ENST00000679429.1:c.*154del	ENSP00000505403.1:n.*154del
ENST00000679443.1:n.765del
ENST00000679782.1:c.696del	ENSP00000505995.1:p.Cys234AlafsTer18
ENST00000679919.1:n.765del
ENST00000679928.1:c.*307del	ENSP00000506071.1:n.*307del
ENST00000680528.1:n.721del
ENST00000680999.1:c.696del	ENSP00000504984.1:p.Cys234AlafsTer18
ENST00000681282.1:c.725del	ENSP00000506339.1:p.Leu242ProfsTer?
ENST00000333213.10:c.696del	ENSP00000327487.6:p.Cys234AlafsTer18
ENST00000578415.1:c.656del
ENST00000583173.5:c.459-230del	ENSP00000463619.1:n.459-230del
ENST00000583818.1:c.645del	ENSP00000461928.1:n.645del
NM_207346.2:c.696del	NP_997229.2:p.Cys234AlafsTer18
XM_005257229.2:c.696del	XP_005257286.1:p.Cys234AlafsTer18
XM_006721821.2:c.393del	XP_006721884.1:p.Cys133AlafsTer18
XM_011524616.1:c.696del	XP_011522918.1:p.Cys234AlafsTer18
XM_011524617.1:c.696del	XP_011522919.1:p.Cys234AlafsTer18
XM_011524618.1:c.696del	XP_011522920.1:p.Cys234AlafsTer18
XR_243646.2:n.726del
XM_005257229.4:c.696del	XP_005257286.1:p.Cys234AlafsTer18
XR_243646.4:n.732del
NM_207346.3:c.696del MANE Select	NP_997229.2:p.Cys234AlafsTer18