Canonical Allele Identifier: CA980965457

Gene: C17orf107 CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4901097_4901099del , CM000679.2:g.4901097_4901099del	GRCh38
NC_000017.10:g.4804392_4804394del , CM000679.1:g.4804392_4804394del	GRCh37
NC_000017.9:g.4745171_4745173del	NCBI36
NG_008029.2:g.6979_6981del

Transcript Alleles

HGVS	Amino-acid Change
NM_000080.4:c.695_697del (CHRNE) MANE Select	NP_000071.1:p.Tyr232del
NM_001145536.2:c.*564_*566del (C17orf107) MANE Select	NP_001139008.1:n.*564_*566del
ENST00000381365.4:c.*564_*566del (C17orf107) MANE Select	ENSP00000370770.3:n.*564_*566del
ENST00000649488.2:c.695_697del (CHRNE) MANE Select	ENSP00000497829.1:p.Tyr232del
NM_000080.3:c.695_697del (CHRNE)	NP_000071.1:p.Tyr232del
NM_001145536.1:c.*564_*566del (C17orf107)	NP_001139008.1:n.*564_*566del
ENST00000293780.4:c.695_697del (CHRNE)	ENSP00000293780.4:p.Tyr232del
ENST00000381365.3:c.*564_*566del (C17orf107)	ENSP00000370770.3:n.*564_*566del
ENST00000572438.1:n.381_383del (CHRNE)
ENST00000575637.1:n.469_471del (CHRNE)
ENST00000649830.1:c.-239_-237del (CHRNE)	ENSP00000496907.1:n.-239_-237del
XM_011523612.1:c.546+591_546+593del (C17orf107)	XP_011521914.1:n.546+591_546+593del
XM_011523631.1:c.695_697del (CHRNE)	XP_011521933.1:p.Tyr232del
XM_017024115.1:c.659_661del (CHRNE)	XP_016879604.1:p.Tyr220del
XR_001752421.1:n.1540_1542del (CHRNE)