Canonical Allele Identifier: CA2244610342
Gene: CHRNE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898788_4898789delinsGC , CM000679.2:g.4898788_4898789delinsGC GRCh38
NC_000017.10:g.4802083_4802084delinsGC , CM000679.1:g.4802083_4802084delinsGC GRCh37
NC_000017.9:g.4742862_4742863delinsGC NCBI36
NG_008029.2:g.9287_9288delinsGC
NG_028005.1:g.70449_70450delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1429_1430delinsGC MANE Select ENSP00000497829.1:p.Ala477=
ENST00000649830.1:c.*65_*66delinsGC ENSP00000496907.1:n.*65_*66delinsGC
ENST00000652550.1:n.1155_1156delinsGC
ENST00000293780.4:c.1429_1430delinsGC ENSP00000293780.4:p.Ala477=
ENST00000572438.1:n.1115_1116delinsGC
NM_000080.3:c.1429_1430delinsGC NP_000071.1:p.Ala477=
NM_000080.4:c.1429_1430delinsGC MANE Select NP_000071.1:p.Ala477=
XM_017024115.1:c.1393_1394delinsGC XP_016879604.1:p.Ala465=
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