Canonical Allele Identifier: CA2580093576

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 2032611
• ClinVar RCV Id: RCV002881301

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902029_4902032dup , CM000679.2:g.4902029_4902032dup	GRCh38
NC_000017.10:g.4805324_4805327dup , CM000679.1:g.4805324_4805327dup	GRCh37
NC_000017.9:g.4746103_4746106dup	NCBI36
NG_008029.2:g.6044_6047dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1496_*1499dup (C17orf107) MANE Select	ENSP00000370770.3:n.*1496_*1499dup
ENST00000649488.2:c.400_403dup (CHRNE) MANE Select	ENSP00000497829.1:p.Ser135TrpfsTer?
ENST00000649830.1:c.-534_-531dup (CHRNE)	ENSP00000496907.1:n.-534_-531dup
ENST00000293780.4:c.400_403dup (CHRNE)	ENSP00000293780.4:p.Ser135TrpfsTer?
ENST00000381365.3:c.*1496_*1499dup (C17orf107)	ENSP00000370770.3:n.*1496_*1499dup
ENST00000575637.1:n.221_224dup (CHRNE)
NM_000080.3:c.400_403dup (CHRNE)	NP_000071.1:p.Ser135TrpfsTer?
NM_001145536.1:c.*1496_*1499dup (C17orf107)	NP_001139008.1:n.*1496_*1499dup
XM_011523612.1:c.546+1523_546+1526dup (C17orf107)	XP_011521914.1:n.546+1523_546+1526dup
XM_011523631.1:c.400_403dup (CHRNE)	XP_011521933.1:p.Ser135TrpfsTer?
NM_000080.4:c.400_403dup (CHRNE) MANE Select	NP_000071.1:p.Ser135TrpfsTer?
XM_017024115.1:c.364_367dup (CHRNE)	XP_016879604.1:p.Ser123TrpfsTer?
XR_001752421.1:n.1245_1248dup (CHRNE)
NM_001145536.2:c.*1496_*1499dup (C17orf107) MANE Select	NP_001139008.1:n.*1496_*1499dup