Canonical Allele Identifier: CA2695201222

Gene: C17orf107 CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899579del , CM000679.2:g.4899579del	GRCh38
NC_000017.10:g.4802874del , CM000679.1:g.4802874del	GRCh37
NC_000017.9:g.4743653del	NCBI36
NG_008029.2:g.8498del
NG_028005.1:g.71240del

Transcript Alleles

HGVS	Amino-acid Change
NM_000080.4:c.922del (CHRNE) MANE Select	NP_000071.1:p.Ile309PhefsTer12
NM_001145536.2:c.-184del (C17orf107) MANE Select	NP_001139008.1:n.-184del
ENST00000381365.4:c.-184del (C17orf107) MANE Select	ENSP00000370770.3:n.-184del
ENST00000649488.2:c.922del (CHRNE) MANE Select	ENSP00000497829.1:p.Ile309PhefsTer12
NM_000080.3:c.922del (CHRNE)	NP_000071.1:p.Ile309PhefsTer12
ENST00000293780.4:c.922del (CHRNE)	ENSP00000293780.4:p.Ile309PhefsTer12
ENST00000381365.3:c.-184del (C17orf107)	ENSP00000370770.3:n.-184del
ENST00000521575.1:c.-184del (C17orf107)	ENSP00000429241.1:n.-184del
ENST00000572438.1:n.608del (CHRNE)
ENST00000649830.1:c.-12del (CHRNE)	ENSP00000496907.1:n.-12del
ENST00000652550.1:n.652del (CHRNE)
XM_011523612.1:c.-184del (C17orf107)	XP_011521914.1:n.-184del
XM_011523631.1:c.807del (CHRNE)	XP_011521933.1:p.Leu270TyrfsTer?
XM_017024115.1:c.886del (CHRNE)	XP_016879604.1:p.Ile297PhefsTer12
XR_001752421.1:n.1652del (CHRNE)