Canonical Allele Identifier: CA2244611795
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4900849_4900852delinsCAAG , CM000679.2:g.4900849_4900852delinsCAAG GRCh38
NC_000017.10:g.4804144_4804147delinsCAAG , CM000679.1:g.4804144_4804147delinsCAAG GRCh37
NC_000017.9:g.4744923_4744926delinsCAAG NCBI36
NG_008029.2:g.7224_7227delinsCTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000381365.4:c.*316_*319delinsCAAG (C17orf107) MANE Select ENSP00000370770.3:n.*316_*319delinsCAAG
ENST00000649488.2:c.858_861delinsCTTG (CHRNE) MANE Select ENSP00000497829.1:p.Phe286=
ENST00000649830.1:c.-76_-73delinsCTTG (CHRNE) ENSP00000496907.1:n.-76_-73delinsCTTG
ENST00000293780.4:c.858_861delinsCTTG (CHRNE) ENSP00000293780.4:p.Phe286=
ENST00000381365.3:c.*316_*319delinsCAAG (C17orf107) ENSP00000370770.3:n.*316_*319delinsCAAG
ENST00000572438.1:n.544_547delinsCTTG (CHRNE)
NM_000080.3:c.858_861delinsCTTG (CHRNE) NP_000071.1:p.Phe286=
NM_001145536.1:c.*316_*319delinsCAAG (C17orf107) NP_001139008.1:n.*316_*319delinsCAAG
XM_011523612.1:c.546+343_546+346delinsCAAG (C17orf107) XP_011521914.1:n.546+343_546+346delinsCAA...
XM_011523631.1:c.802+138_802+141delinsCTTG (CHRNE) XP_011521933.1:n.802+138_802+141delinsCTT...
NM_000080.4:c.858_861delinsCTTG (CHRNE) MANE Select NP_000071.1:p.Phe286=
XM_017024115.1:c.822_825delinsCTTG (CHRNE) XP_016879604.1:p.Phe274=
XR_001752421.1:n.1647+138_1647+141delinsCTTG (CHRNE)
NM_001145536.2:c.*316_*319delinsCAAG (C17orf107) MANE Select NP_001139008.1:n.*316_*319delinsCAAG