Canonical Allele Identifier: CA10575537
Community Standard Title: NM_000080.4(CHRNE):c.1030del (p.His344ThrfsTer?)
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899471del , CM000679.2:g.4899471del GRCh38
NC_000017.10:g.4802766del , CM000679.1:g.4802766del GRCh37
NC_000017.9:g.4743545del NCBI36
NG_008029.2:g.8606del
NG_028005.1:g.71132del

Transcript Alleles

HGVS Amino-acid Change
NM_000080.4:c.1030del (CHRNE) MANE Select NP_000071.1:p.His344ThrfsTer?
ENST00000649488.2:c.1030del (CHRNE) MANE Select ENSP00000497829.1:p.His344ThrfsTer?
NM_000080.3:c.1030del (CHRNE) NP_000071.1:p.His344ThrfsTer?
ENST00000293780.4:c.1030del (CHRNE) ENSP00000293780.4:p.His344ThrfsTer?
ENST00000521575.1:c.-292del (C17orf107) ENSP00000429241.1:n.-292del
ENST00000572438.1:n.716del (CHRNE)
ENST00000649830.1:c.97del (CHRNE) ENSP00000496907.1:p.His33ThrfsTer?
ENST00000652550.1:n.760del (CHRNE)
XM_011523612.1:c.-292del (C17orf107) XP_011521914.1:n.-292del
XM_017024115.1:c.994del (CHRNE) XP_016879604.1:p.His332ThrfsTer?
XR_001752421.1:n.1760del (CHRNE)
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