Canonical Allele Identifier: CA2244612764
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4902310_4902311delinsCG , CM000679.2:g.4902310_4902311delinsCG GRCh38
NC_000017.10:g.4805605_4805606delinsCG , CM000679.1:g.4805605_4805606delinsCG GRCh37
NC_000017.9:g.4746384_4746385delinsCG NCBI36
NG_008029.2:g.5765_5766delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000381365.4:c.*1777_*1778delinsCG (C17orf107) MANE Select ENSP00000370770.3:n.*1777_*1778delinsCG
ENST00000649488.2:c.250_251delinsCG (CHRNE) MANE Select ENSP00000497829.1:p.Arg84=
ENST00000649830.1:c.-684_-683delinsCG (CHRNE) ENSP00000496907.1:n.-684_-683delinsCG
ENST00000293780.4:c.250_251delinsCG (CHRNE) ENSP00000293780.4:p.Arg84=
ENST00000381365.3:c.*1777_*1778delinsCG (C17orf107) ENSP00000370770.3:n.*1777_*1778delinsCG
ENST00000575637.1:n.71_72delinsCG (CHRNE)
NM_000080.3:c.250_251delinsCG (CHRNE) NP_000071.1:p.Arg84=
NM_001145536.1:c.*1777_*1778delinsCG (C17orf107) NP_001139008.1:n.*1777_*1778delinsCG
XM_011523612.1:c.546+1804_546+1805delinsCG (C17orf107) XP_011521914.1:n.546+1804_546+1805delinsCG
XM_011523631.1:c.250_251delinsCG (CHRNE) XP_011521933.1:p.Arg84=
NM_000080.4:c.250_251delinsCG (CHRNE) MANE Select NP_000071.1:p.Arg84=
XM_017024115.1:c.214_215delinsCG (CHRNE) XP_016879604.1:p.Arg72=
XR_001752421.1:n.1095_1096delinsCG (CHRNE)
NM_001145536.2:c.*1777_*1778delinsCG (C17orf107) MANE Select NP_001139008.1:n.*1777_*1778delinsCG