Canonical Allele Identifier: CA645582602
Gene: C17orf107 HGNC NCBI
CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4900805_4900806delinsAA , CM000679.2:g.4900805_4900806delinsAA GRCh38
NC_000017.10:g.4804100_4804101delinsAA , CM000679.1:g.4804100_4804101delinsAA GRCh37
NC_000017.9:g.4744879_4744880delinsAA NCBI36
NG_008029.2:g.7270_7271delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000381365.4:c.*272_*273delinsAA (C17orf107) MANE Select ENSP00000370770.3:n.*272_*273delinsAA
ENST00000649488.2:c.904_905delinsTT (CHRNE) MANE Select ENSP00000497829.1:p.Pro302Leu
ENST00000649830.1:c.-30_-29delinsTT (CHRNE) ENSP00000496907.1:n.-30_-29delinsTT
ENST00000293780.4:c.904_905delinsTT (CHRNE) ENSP00000293780.4:p.Pro302Leu
ENST00000381365.3:c.*272_*273delinsAA (C17orf107) ENSP00000370770.3:n.*272_*273delinsAA
ENST00000572438.1:n.590_591delinsTT (CHRNE)
NM_000080.3:c.904_905delinsTT (CHRNE) NP_000071.1:p.Pro302Leu
NM_001145536.1:c.*272_*273delinsAA (C17orf107) NP_001139008.1:n.*272_*273delinsAA
XM_011523612.1:c.546+299_546+300delinsAA (C17orf107) XP_011521914.1:n.546+299_546+300delinsAA
XM_011523631.1:c.802+184_802+185delinsTT (CHRNE) XP_011521933.1:n.802+184_802+185delinsTT
NM_000080.4:c.904_905delinsTT (CHRNE) MANE Select NP_000071.1:p.Pro302Leu
XM_017024115.1:c.868_869delinsTT (CHRNE) XP_016879604.1:p.Pro290Leu
XR_001752421.1:n.1647+184_1647+185delinsTT (CHRNE)
NM_001145536.2:c.*272_*273delinsAA (C17orf107) MANE Select NP_001139008.1:n.*272_*273delinsAA