Canonical Allele Identifier: CA2695224236

Gene: C17orf107 CHRNE

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900815_4900817del , CM000679.2:g.4900815_4900817del	GRCh38
NC_000017.10:g.4804110_4804112del , CM000679.1:g.4804110_4804112del	GRCh37
NC_000017.9:g.4744889_4744891del	NCBI36
NG_008029.2:g.7259_7261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*282_*284del (C17orf107) MANE Select	ENSP00000370770.3:n.*282_*284del
ENST00000649488.2:c.893_895del (CHRNE) MANE Select	ENSP00000497829.1:p.Ser298del
ENST00000649830.1:c.-41_-39del (CHRNE)	ENSP00000496907.1:n.-41_-39del
ENST00000293780.4:c.893_895del (CHRNE)	ENSP00000293780.4:p.Ser298del
ENST00000381365.3:c.*282_*284del (C17orf107)	ENSP00000370770.3:n.*282_*284del
ENST00000572438.1:n.579_581del (CHRNE)
NM_000080.3:c.893_895del (CHRNE)	NP_000071.1:p.Ser298del
NM_001145536.1:c.*282_*284del (C17orf107)	NP_001139008.1:n.*282_*284del
XM_011523612.1:c.546+309_546+311del (C17orf107)	XP_011521914.1:n.546+309_546+311del
XM_011523631.1:c.802+173_802+175del (CHRNE)	XP_011521933.1:n.802+173_802+175del
NM_000080.4:c.893_895del (CHRNE) MANE Select	NP_000071.1:p.Ser298del
XM_017024115.1:c.857_859del (CHRNE)	XP_016879604.1:p.Ser286del
XR_001752421.1:n.1647+173_1647+175del (CHRNE)
NM_001145536.2:c.*282_*284del (C17orf107) MANE Select	NP_001139008.1:n.*282_*284del