Canonical Allele Identifier: CA294079162

Gene: TSEN54

Linked Data

• ClinVar Variation Id: 561138
• ClinVar RCV Id: RCV000680133 ; RCV003768038
• dbSNP Id: rs1012275384
• gnomAD v2: 17-73518099-AC-A
• gnomAD v3: 17-75522018-AC-A
• gnomAD v4: 17-75522018-AC-A
• MyVariant Identifiers: chr17:g.73518100del (hg19) ; chr17:g.75522019del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522021del , CM000679.2:g.75522021del	GRCh38
NC_000017.10:g.73518102del , CM000679.1:g.73518102del	GRCh37
NC_000017.9:g.71029697del	NCBI36
NG_013041.1:g.10494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.940del MANE Select	ENSP00000327487.6:p.Leu314PhefsTer28
ENST00000434205.8:c.637del	ENSP00000406559.4:p.Leu213PhefsTer28
ENST00000545228.3:c.940del	ENSP00000438169.3:p.Leu314PhefsTer28
ENST00000579449.2:n.739del
ENST00000580013.6:n.1143del
ENST00000679370.1:n.1521del
ENST00000679429.1:c.*398del	ENSP00000505403.1:n.*398del
ENST00000679443.1:n.1009del
ENST00000679782.1:c.940del	ENSP00000505995.1:p.Leu314PhefsTer28
ENST00000679919.1:n.1009del
ENST00000679928.1:c.*551del	ENSP00000506071.1:n.*551del
ENST00000680528.1:n.965del
ENST00000680999.1:c.940del	ENSP00000504984.1:p.Leu314PhefsTer28
ENST00000681282.1:c.*186del	ENSP00000506339.1:n.*186del
ENST00000333213.10:c.940del	ENSP00000327487.6:p.Leu314PhefsTer28
ENST00000545228.2:c.29del
ENST00000578415.1:c.900del
ENST00000583173.5:c.473del	ENSP00000463619.1:p.Pro158LeufsTer?
NM_207346.2:c.940del	NP_997229.2:p.Leu314PhefsTer28
XM_005257229.2:c.940del	XP_005257286.1:p.Leu314PhefsTer28
XM_006721821.2:c.637del	XP_006721884.1:p.Leu213PhefsTer28
XM_011524616.1:c.940del	XP_011522918.1:p.Leu314PhefsTer28
XM_011524617.1:c.940del	XP_011522919.1:p.Leu314PhefsTer28
XM_011524618.1:c.940del	XP_011522920.1:p.Leu314PhefsTer28
XR_243646.2:n.970del
XM_005257229.4:c.940del	XP_005257286.1:p.Leu314PhefsTer28
XR_243646.4:n.976del
NM_207346.3:c.940del MANE Select	NP_997229.2:p.Leu314PhefsTer28