Canonical Allele Identifier: CA8314054
Gene: CHRNE HGNC NCBI
C17orf107 HGNC NCBI

Linked Data

dbSNP Id: rs755351598
ExAC: 17:4802720 A / AGCCCCACCCCGACCCGGGCT
gnomAD v2: 17-4802720-A-AGCCCCACCCCGACCCGGGCT
gnomAD v3: 17-4899425-A-AGCCCCACCCCGACCCGGGCT
gnomAD v4: 17-4899425-A-AGCCCCACCCCGACCCGGGCT
MyVariant Identifiers: chr17:g.4802720_4802721insGCCCCACCCCGACCCGGGCT (hg19) chr17:g.4899425_4899426insGCCCCACCCCGACCCGGGCT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4899428_4899447dup , CM000679.2:g.4899428_4899447dup GRCh38
NC_000017.10:g.4802723_4802742dup , CM000679.1:g.4802723_4802742dup GRCh37
NC_000017.9:g.4743502_4743521dup NCBI36
NG_008029.2:g.8631_8650dup
NG_028005.1:g.71089_71108dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1032+23_1033-42dup (CHRNE) MANE Select ENSP00000497829.1:n.1032+23_1033-42dup
ENST00000649830.1:c.99+23_100-42dup (CHRNE) ENSP00000496907.1:n.99+23_100-42dup
ENST00000652550.1:n.762+23_763-42dup (CHRNE)
ENST00000293780.4:c.1032+23_1033-42dup (CHRNE) ENSP00000293780.4:n.1032+23_1033-42dup
ENST00000521575.1:c.-335_-316dup (C17orf107) ENSP00000429241.1:n.-335_-316dup
ENST00000572438.1:n.718+23_719-42dup (CHRNE)
NM_000080.3:c.1032+23_1033-42dup (CHRNE) NP_000071.1:n.1032+23_1033-42dup
NM_000080.4:c.1032+23_1033-42dup (CHRNE) MANE Select NP_000071.1:n.1032+23_1033-42dup
XM_017024115.1:c.996+23_997-42dup (CHRNE) XP_016879604.1:n.996+23_997-42dup
XR_001752421.1:n.1762+23_1763-42dup (CHRNE)
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