Canonical Allele Identifier: CA627594377

Gene: TSEN54

Linked Data

• dbSNP Id: rs1436161318
• gnomAD v2: 17-73518226-A-ACCACGCGGAGG
• gnomAD v4: 17-75522145-A-ACCACGCGGAGG
• MyVariant Identifiers: chr17:g.73518226_73518227insCCACGCGGAGG (hg19) ; chr17:g.75522145_75522146insCCACGCGGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75522148_75522158dup , CM000679.2:g.75522148_75522158dup	GRCh38
NC_000017.10:g.73518229_73518239dup , CM000679.1:g.73518229_73518239dup	GRCh37
NC_000017.9:g.71029824_71029834dup	NCBI36
NG_013041.1:g.10621_10631dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333213.11:c.1067_1077dup MANE Select	ENSP00000327487.6:p.Ala360ThrfsTer?
ENST00000434205.8:c.764_774dup	ENSP00000406559.4:p.Ala259ThrfsTer?
ENST00000545228.3:c.1067_1077dup	ENSP00000438169.3:p.Ala360ThrfsTer?
ENST00000579449.2:n.866_876dup
ENST00000580013.6:n.1270_1280dup
ENST00000679370.1:n.1648_1658dup
ENST00000679429.1:c.*525_*535dup	ENSP00000505403.1:n.*525_*535dup
ENST00000679443.1:n.1136_1146dup
ENST00000679782.1:c.1067_1077dup	ENSP00000505995.1:p.Ala360ThrfsTer?
ENST00000679919.1:n.1136_1146dup
ENST00000679928.1:c.*678_*688dup	ENSP00000506071.1:n.*678_*688dup
ENST00000680528.1:n.1092_1102dup
ENST00000680999.1:c.1067_1077dup	ENSP00000504984.1:p.Ala360ThrfsTer?
ENST00000681282.1:c.*313_*323dup	ENSP00000506339.1:n.*313_*323dup
ENST00000333213.10:c.1067_1077dup	ENSP00000327487.6:p.Ala360ThrfsTer?
ENST00000545228.2:c.156_166dup
ENST00000583173.5:c.600_610dup	ENSP00000463619.1:n.600_610dup
NM_207346.2:c.1067_1077dup	NP_997229.2:p.Ala360ThrfsTer?
XM_005257229.2:c.1067_1077dup	XP_005257286.1:p.Ala360ThrfsTer?
XM_006721821.2:c.764_774dup	XP_006721884.1:p.Ala259ThrfsTer?
XM_011524616.1:c.1067_1077dup	XP_011522918.1:p.Ala360ThrfsTer?
XM_011524617.1:c.1067_1077dup	XP_011522919.1:p.Ala360ThrfsTer?
XM_011524618.1:c.1067_1077dup	XP_011522920.1:p.Ala360ThrfsTer?
XR_243646.2:n.1097_1107dup
XM_005257229.4:c.1067_1077dup	XP_005257286.1:p.Ala360ThrfsTer?
XR_243646.4:n.1103_1113dup
NM_207346.3:c.1067_1077dup MANE Select	NP_997229.2:p.Ala360ThrfsTer?