Canonical Allele Identifier: CA130791
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4900818_4900820del , CM000679.2:g.4900818_4900820del GRCh38
NC_000017.10:g.4804113_4804115del , CM000679.1:g.4804113_4804115del GRCh37
NC_000017.9:g.4744892_4744894del NCBI36
NG_008029.2:g.7258_7260del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381365.4:c.*285_*287del (C17orf107) MANE Select ENSP00000370770.3:n.*285_*287del
ENST00000649488.2:c.892_894del (CHRNE) MANE Select ENSP00000497829.1:p.Ser298del
ENST00000649830.1:c.-42_-40del (CHRNE) ENSP00000496907.1:n.-42_-40del
ENST00000293780.4:c.892_894del (CHRNE) ENSP00000293780.4:p.Ser298del
ENST00000381365.3:c.*285_*287del (C17orf107) ENSP00000370770.3:n.*285_*287del
ENST00000572438.1:n.578_580del (CHRNE)
NM_000080.3:c.892_894del (CHRNE) NP_000071.1:p.Ser298del
NM_001145536.1:c.*285_*287del (C17orf107) NP_001139008.1:n.*285_*287del
XM_011523612.1:c.546+312_546+314del (C17orf107) XP_011521914.1:n.546+312_546+314del
XM_011523631.1:c.802+172_802+174del (CHRNE) XP_011521933.1:n.802+172_802+174del
NM_000080.4:c.892_894del (CHRNE) MANE Select NP_000071.1:p.Ser298del
XM_017024115.1:c.856_858del (CHRNE) XP_016879604.1:p.Ser286del
XR_001752421.1:n.1647+172_1647+174del (CHRNE)
NM_001145536.2:c.*285_*287del (C17orf107) MANE Select NP_001139008.1:n.*285_*287del
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Search 100 bp 3'