Canonical Allele Identifier: CA8764283

Gene: TSEN54

Linked Data

• dbSNP Id: rs763217259
• ExAC: 17:73517996 CTGGGAGAG / C
• MyVariant Identifiers: chr17:g.73517997_73518004del (hg19) ; chr17:g.75521916_75521923del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75521919_75521926del , CM000679.2:g.75521919_75521926del	GRCh38
NC_000017.10:g.73518000_73518007del , CM000679.1:g.73518000_73518007del	GRCh37
NC_000017.9:g.71029595_71029602del	NCBI36
NG_013041.1:g.10392_10399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.838_845del MANE Select	ENSP00000327487.6:p.Glu280GlnfsTer11
ENST00000434205.8:c.535_542del	ENSP00000406559.4:p.Glu179GlnfsTer11
ENST00000545228.3:c.838_845del	ENSP00000438169.3:p.Glu280GlnfsTer11
ENST00000579449.2:n.637_644del
ENST00000580013.6:n.1041_1048del
ENST00000679370.1:n.1419_1426del
ENST00000679429.1:c.*296_*303del	ENSP00000505403.1:n.*296_*303del
ENST00000679443.1:n.907_914del
ENST00000679782.1:c.838_845del	ENSP00000505995.1:p.Glu280GlnfsTer11
ENST00000679919.1:n.907_914del
ENST00000679928.1:c.*449_*456del	ENSP00000506071.1:n.*449_*456del
ENST00000680528.1:n.863_870del
ENST00000680999.1:c.838_845del	ENSP00000504984.1:p.Glu280GlnfsTer11
ENST00000681282.1:c.*84_*91del	ENSP00000506339.1:n.*84_*91del
ENST00000333213.10:c.838_845del	ENSP00000327487.6:p.Glu280GlnfsTer11
ENST00000578415.1:c.798_805del
ENST00000583173.5:c.459-88_459-81del	ENSP00000463619.1:n.459-88_459-81del
NM_207346.2:c.838_845del	NP_997229.2:p.Glu280GlnfsTer11
XM_005257229.2:c.838_845del	XP_005257286.1:p.Glu280GlnfsTer11
XM_006721821.2:c.535_542del	XP_006721884.1:p.Glu179GlnfsTer11
XM_011524616.1:c.838_845del	XP_011522918.1:p.Glu280GlnfsTer11
XM_011524617.1:c.838_845del	XP_011522919.1:p.Glu280GlnfsTer11
XM_011524618.1:c.838_845del	XP_011522920.1:p.Glu280GlnfsTer11
XR_243646.2:n.868_875del
XM_005257229.4:c.838_845del	XP_005257286.1:p.Glu280GlnfsTer11
XR_243646.4:n.874_881del
NM_207346.3:c.838_845del MANE Select	NP_997229.2:p.Glu280GlnfsTer11