Canonical Allele Identifier: CA624619641
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1409038922
gnomAD v2: 17-4801413-C-CCAGGGTGGGGAAGAAAGGGG
gnomAD v3: 17-4898118-C-CCAGGGTGGGGAAGAAAGGGG
gnomAD v4: 17-4898118-C-CCAGGGTGGGGAAGAAAGGGG
MyVariant Identifiers: chr17:g.4801413_4801414insCAGGGTGGGGAAGAAAGGGG (hg19) chr17:g.4898118_4898119insCAGGGTGGGGAAGAAAGGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898128_4898147dup , CM000679.2:g.4898128_4898147dup GRCh38
NC_000017.10:g.4801423_4801442dup , CM000679.1:g.4801423_4801442dup GRCh37
NC_000017.9:g.4742202_4742221dup NCBI36
NG_008029.2:g.9938_9957dup
NG_028005.1:g.69789_69808dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*598_*617dup MANE Select ENSP00000497829.1:n.*598_*617dup
ENST00000649830.1:c.*716_*735dup ENSP00000496907.1:n.*716_*735dup
ENST00000652550.1:n.1806_1825dup
ENST00000293780.4:c.*598_*617dup ENSP00000293780.4:n.*598_*617dup
ENST00000572438.1:n.1766_1785dup
NM_000080.3:c.*598_*617dup NP_000071.1:n.*598_*617dup
NM_000080.4:c.*598_*617dup MANE Select NP_000071.1:n.*598_*617dup
XM_017024115.1:c.*598_*617dup XP_016879604.1:n.*598_*617dup
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