Canonical Allele Identifier: CA2244610336
Gene: CHRNE HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898778_4898783delinsGTTGAA , CM000679.2:g.4898778_4898783delinsGTTGAA GRCh38
NC_000017.10:g.4802073_4802078delinsGTTGAA , CM000679.1:g.4802073_4802078delinsGTTGAA GRCh37
NC_000017.9:g.4742852_4742857delinsGTTGAA NCBI36
NG_008029.2:g.9293_9298delinsTTCAAC
NG_028005.1:g.70439_70444delinsGTTGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1435_1440delinsTTCAAC MANE Select ENSP00000497829.1:p.Phe479=
ENST00000649830.1:c.*71_*76delinsTTCAAC ENSP00000496907.1:n.*71_*76delinsTTCAAC
ENST00000652550.1:n.1161_1166delinsTTCAAC
ENST00000293780.4:c.1435_1440delinsTTCAAC ENSP00000293780.4:p.Phe479=
ENST00000572438.1:n.1121_1126delinsTTCAAC
NM_000080.3:c.1435_1440delinsTTCAAC NP_000071.1:p.Phe479=
NM_000080.4:c.1435_1440delinsTTCAAC MANE Select NP_000071.1:p.Phe479=
XM_017024115.1:c.1399_1404delinsTTCAAC XP_016879604.1:p.Phe467=
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