Canonical Allele Identifier: CA10575535
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.4899529del
GRCh37 chr17:g.4802824del
gnomAD v3:
17:4899528 GA / G
gnomAD v4:
chr17-4899528-GA-G
Joint Max Group AF 0.00002834 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00002719 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899529del , CM000679.2:g.4899529del GRCh38
NC_000017.10:g.4802824del , CM000679.1:g.4802824del GRCh37
NC_000017.9:g.4743603del NCBI36
NG_008029.2:g.8547del
NG_028005.1:g.71190del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.971del (CHRNE) MANE Select ENSP00000497829.1:p.Ile324ThrfsTer?
ENST00000649830.1:c.38del (CHRNE) ENSP00000496907.1:p.Ile13ThrfsTer?
ENST00000652550.1:n.701del (CHRNE)
ENST00000293780.4:c.971del (CHRNE) ENSP00000293780.4:p.Ile324ThrfsTer?
ENST00000521575.1:c.-234del (C17orf107) ENSP00000429241.1:n.-234del
ENST00000572438.1:n.657del (CHRNE)
NM_000080.3:c.971del (CHRNE) NP_000071.1:p.Ile324ThrfsTer?
XM_011523612.1:c.-234del (C17orf107) XP_011521914.1:n.-234del
XM_011523631.1:c.*10del (CHRNE) XP_011521933.1:n.*10del
NM_000080.4:c.971del (CHRNE) MANE Select NP_000071.1:p.Ile324ThrfsTer?
XM_017024115.1:c.935del (CHRNE) XP_016879604.1:p.Ile312ThrfsTer?
XR_001752421.1:n.1701del (CHRNE)
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