Canonical Allele Identifier: CA2244610946

Gene: CHRNE C17orf107

Linked Data

• ClinVar Variation Id: 1424525
• ClinVar RCV Id: RCV001921727
• dbSNP Id: rs1969880683

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899514_4899515del , CM000679.2:g.4899514_4899515del	GRCh38
NC_000017.10:g.4802809_4802810del , CM000679.1:g.4802809_4802810del	GRCh37
NC_000017.9:g.4743588_4743589del	NCBI36
NG_008029.2:g.8561_8562del
NG_028005.1:g.71175_71176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.985_986del (CHRNE) MANE Select	ENSP00000497829.1:p.Ser329ProfsTer?
ENST00000649830.1:c.52_53del (CHRNE)	ENSP00000496907.1:p.Ser18ProfsTer?
ENST00000652550.1:n.715_716del (CHRNE)
ENST00000293780.4:c.985_986del (CHRNE)	ENSP00000293780.4:p.Ser329ProfsTer?
ENST00000521575.1:c.-249_-248del (C17orf107)	ENSP00000429241.1:n.-249_-248del
ENST00000572438.1:n.671_672del (CHRNE)
NM_000080.3:c.985_986del (CHRNE)	NP_000071.1:p.Ser329ProfsTer?
XM_011523612.1:c.-249_-248del (C17orf107)	XP_011521914.1:n.-249_-248del
XM_011523631.1:c.*24_*25del (CHRNE)	XP_011521933.1:n.*24_*25del
NM_000080.4:c.985_986del (CHRNE) MANE Select	NP_000071.1:p.Ser329ProfsTer?
XM_017024115.1:c.949_950del (CHRNE)	XP_016879604.1:p.Ser317ProfsTer?
XR_001752421.1:n.1715_1716del (CHRNE)