Canonical Allele Identifier: CA8764301

Gene: TSEN54

Linked Data

• dbSNP Id: rs751647529
• ExAC: 17:73518064 TCTC / T
• gnomAD v2: 17-73518064-TCTC-T
• gnomAD v3: 17-75521983-TCTC-T
• gnomAD v4: 17-75521983-TCTC-T
• MyVariant Identifiers: chr17:g.73518065_73518067del (hg19) ; chr17:g.75521984_75521986del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521986_75521988del , CM000679.2:g.75521986_75521988del	GRCh38
NC_000017.10:g.73518067_73518069del , CM000679.1:g.73518067_73518069del	GRCh37
NC_000017.9:g.71029662_71029664del	NCBI36
NG_013041.1:g.10459_10461del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.905_907del MANE Select	ENSP00000327487.6:p.Ser302del
ENST00000434205.8:c.602_604del	ENSP00000406559.4:p.Ser201del
ENST00000545228.3:c.905_907del	ENSP00000438169.3:p.Ser302del
ENST00000579449.2:n.704_706del
ENST00000580013.6:n.1108_1110del
ENST00000679370.1:n.1486_1488del
ENST00000679429.1:c.*363_*365del	ENSP00000505403.1:n.*363_*365del
ENST00000679443.1:n.974_976del
ENST00000679782.1:c.905_907del	ENSP00000505995.1:p.Ser302del
ENST00000679919.1:n.974_976del
ENST00000679928.1:c.*516_*518del	ENSP00000506071.1:n.*516_*518del
ENST00000680528.1:n.930_932del
ENST00000680999.1:c.905_907del	ENSP00000504984.1:p.Ser302del
ENST00000681282.1:c.*151_*153del	ENSP00000506339.1:n.*151_*153del
ENST00000333213.10:c.905_907del	ENSP00000327487.6:p.Ser302del
ENST00000578415.1:c.865_867del
ENST00000583173.5:c.459-21_459-19del	ENSP00000463619.1:n.459-21_459-19del
NM_207346.2:c.905_907del	NP_997229.2:p.Ser302del
XM_005257229.2:c.905_907del	XP_005257286.1:p.Ser302del
XM_006721821.2:c.602_604del	XP_006721884.1:p.Ser201del
XM_011524616.1:c.905_907del	XP_011522918.1:p.Ser302del
XM_011524617.1:c.905_907del	XP_011522919.1:p.Ser302del
XM_011524618.1:c.905_907del	XP_011522920.1:p.Ser302del
XR_243646.2:n.935_937del
XM_005257229.4:c.905_907del	XP_005257286.1:p.Ser302del
XR_243646.4:n.941_943del
NM_207346.3:c.905_907del MANE Select	NP_997229.2:p.Ser302del