Canonical Allele Identifier: CA2580613965

Gene: C17orf107 CHRNE

Linked Data

• ClinVar Variation Id: 1353344
• ClinVar RCV Id: RCV001873833
• dbSNP Id: rs2151098538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902247_4902248del , CM000679.2:g.4902247_4902248del	GRCh38
NC_000017.10:g.4805542_4805543del , CM000679.1:g.4805542_4805543del	GRCh37
NC_000017.9:g.4746321_4746322del	NCBI36
NG_008029.2:g.5831_5832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1714_*1715del (C17orf107) MANE Select	ENSP00000370770.3:n.*1714_*1715del
ENST00000649488.2:c.316_317del (CHRNE) MANE Select	ENSP00000497829.1:p.Trp106AlafsTer11
ENST00000649830.1:c.-618_-617del (CHRNE)	ENSP00000496907.1:n.-618_-617del
ENST00000293780.4:c.316_317del (CHRNE)	ENSP00000293780.4:p.Trp106AlafsTer11
ENST00000381365.3:c.*1714_*1715del (C17orf107)	ENSP00000370770.3:n.*1714_*1715del
ENST00000575637.1:n.137_138del (CHRNE)
NM_000080.3:c.316_317del (CHRNE)	NP_000071.1:p.Trp106AlafsTer11
NM_001145536.1:c.*1714_*1715del (C17orf107)	NP_001139008.1:n.*1714_*1715del
XM_011523612.1:c.546+1741_546+1742del (C17orf107)	XP_011521914.1:n.546+1741_546+1742del
XM_011523631.1:c.316_317del (CHRNE)	XP_011521933.1:p.Trp106AlafsTer11
NM_000080.4:c.316_317del (CHRNE) MANE Select	NP_000071.1:p.Trp106AlafsTer11
XM_017024115.1:c.280_281del (CHRNE)	XP_016879604.1:p.Trp94AlafsTer11
XR_001752421.1:n.1161_1162del (CHRNE)
NM_001145536.2:c.*1714_*1715del (C17orf107) MANE Select	NP_001139008.1:n.*1714_*1715del