Canonical Allele Identifier: CA8314588

Gene: C17orf107 CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902623_4902627dup , CM000679.2:g.4902623_4902627dup	GRCh38
NC_000017.10:g.4805918_4805922dup , CM000679.1:g.4805918_4805922dup	GRCh37
NC_000017.9:g.4746697_4746701dup	NCBI36
NG_008029.2:g.5449_5453dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000080.4:c.183_187dup (CHRNE) MANE Select	NP_000071.1:p.Leu63ProfsTer3
NM_001145536.2:c.*2090_*2094dup (C17orf107) MANE Select	NP_001139008.1:n.*2090_*2094dup
ENST00000381365.4:c.*2090_*2094dup (C17orf107) MANE Select	ENSP00000370770.3:n.*2090_*2094dup
ENST00000649488.2:c.183_187dup (CHRNE) MANE Select	ENSP00000497829.1:p.Leu63ProfsTer3
NM_000080.3:c.183_187dup (CHRNE)	NP_000071.1:p.Leu63ProfsTer3
NM_001145536.1:c.*2090_*2094dup (C17orf107)	NP_001139008.1:n.*2090_*2094dup
ENST00000293780.4:c.183_187dup (CHRNE)	ENSP00000293780.4:p.Leu63ProfsTer3
ENST00000381365.3:c.*2090_*2094dup (C17orf107)	ENSP00000370770.3:n.*2090_*2094dup
ENST00000575637.1:n.4_8dup (CHRNE)
ENST00000649830.1:c.-751_-747dup (CHRNE)	ENSP00000496907.1:n.-751_-747dup
XM_011523612.1:c.546+2117_546+2121dup (C17orf107)	XP_011521914.1:n.546+2117_546+2121dup
XM_011523631.1:c.183_187dup (CHRNE)	XP_011521933.1:p.Leu63ProfsTer3
XM_017024115.1:c.147_151dup (CHRNE)	XP_016879604.1:p.Leu51ProfsTer3
XR_001752421.1:n.1028_1032dup (CHRNE)