Canonical Allele Identifier: CA2244611801
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4900854_4900855delinsAG , CM000679.2:g.4900854_4900855delinsAG GRCh38
NC_000017.10:g.4804149_4804150delinsAG , CM000679.1:g.4804149_4804150delinsAG GRCh37
NC_000017.9:g.4744928_4744929delinsAG NCBI36
NG_008029.2:g.7221_7222delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000381365.4:c.*321_*322delinsAG (C17orf107) MANE Select ENSP00000370770.3:n.*321_*322delinsAG
ENST00000649488.2:c.855_856delinsCT (CHRNE) MANE Select ENSP00000497829.1:p.Val285=
ENST00000649830.1:c.-79_-78delinsCT (CHRNE) ENSP00000496907.1:n.-79_-78delinsCT
ENST00000293780.4:c.855_856delinsCT (CHRNE) ENSP00000293780.4:p.Val285=
ENST00000381365.3:c.*321_*322delinsAG (C17orf107) ENSP00000370770.3:n.*321_*322delinsAG
ENST00000572438.1:n.541_542delinsCT (CHRNE)
NM_000080.3:c.855_856delinsCT (CHRNE) NP_000071.1:p.Val285=
NM_001145536.1:c.*321_*322delinsAG (C17orf107) NP_001139008.1:n.*321_*322delinsAG
XM_011523612.1:c.546+348_546+349delinsAG (C17orf107) XP_011521914.1:n.546+348_546+349delinsAG
XM_011523631.1:c.802+135_802+136delinsCT (CHRNE) XP_011521933.1:n.802+135_802+136delinsCT
NM_000080.4:c.855_856delinsCT (CHRNE) MANE Select NP_000071.1:p.Val285=
XM_017024115.1:c.819_820delinsCT (CHRNE) XP_016879604.1:p.Val273=
XR_001752421.1:n.1647+135_1647+136delinsCT (CHRNE)
NM_001145536.2:c.*321_*322delinsAG (C17orf107) MANE Select NP_001139008.1:n.*321_*322delinsAG