Canonical Allele Identifier: CA2580074796

Gene: TSPYL1 DSE

Linked Data

• ClinVar Variation Id: 5385
• ClinVar RCV Id: RCV000005716

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116279372dup , CM000668.2:g.116279372dup	GRCh38
NC_000006.11:g.116600535dup , CM000668.1:g.116600535dup	GRCh37
NC_000006.10:g.116707228dup	NCBI36
NG_016217.1:g.5747dup , LRG_862:g.5747dup
NG_033266.1:g.4253dup
NG_033266.3:g.30221dup
NG_033266.4:g.30202dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368608.4:c.460dup (TSPYL1) MANE Select	ENSP00000357597.4:p.Glu154GlyfsTer16
ENST00000647244.1:c.-54+20405dup (DSE)	ENSP00000495184.1:n.-54+20405dup
ENST00000652202.1:c.460dup (TSPYL1)	ENSP00000498597.1:p.Glu154GlyfsTer16
ENST00000368608.3:c.460dup (TSPYL1)	ENSP00000357597.3:p.Glu154GlyfsTer16
ENST00000430252.6:c.-54+20405dup (DSE)	ENSP00000397597.2:n.-54+20405dup
ENST00000607094.1:n.230dup (DSE)
NM_003309.3:c.460dup , LRG_862t1:c.460dup (TSPYL1)	NP_003300.1:p.Glu154GlyfsTer16
NM_001322937.1:c.-54+20405dup (DSE)	NP_001309866.1:n.-54+20405dup
NM_001322938.1:c.-54+20405dup (DSE)	NP_001309867.1:n.-54+20405dup
NM_001322940.1:c.-611+20405dup (DSE)	NP_001309869.1:n.-611+20405dup
NM_001322937.2:c.-54+20405dup (DSE)	NP_001309866.1:n.-54+20405dup
NM_001322938.2:c.-54+20405dup (DSE)	NP_001309867.1:n.-54+20405dup
NM_001322940.2:c.-611+20405dup (DSE)	NP_001309869.1:n.-611+20405dup
NM_001374520.1:c.-954+20405dup (DSE)	NP_001361449.1:n.-954+20405dup
NM_001374521.1:c.-641+20405dup (DSE)	NP_001361450.1:n.-641+20405dup
NM_001374522.1:c.-54+20405dup (DSE)	NP_001361451.1:n.-54+20405dup
NM_003309.4:c.460dup (TSPYL1) MANE Select	NP_003300.1:p.Glu154GlyfsTer16