Canonical Allele Identifier: CA2244610156
Gene: CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898532_4898534delinsATG , CM000679.2:g.4898532_4898534delinsATG GRCh38
NC_000017.10:g.4801827_4801829delinsATG , CM000679.1:g.4801827_4801829delinsATG GRCh37
NC_000017.9:g.4742606_4742608delinsATG NCBI36
NG_008029.2:g.9542_9544delinsCAT
NG_028005.1:g.70193_70195delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*202_*204delinsCAT MANE Select ENSP00000497829.1:n.*202_*204delinsCAT
ENST00000649830.1:c.*320_*322delinsCAT ENSP00000496907.1:n.*320_*322delinsCAT
ENST00000652550.1:n.1410_1412delinsCAT
ENST00000293780.4:c.*202_*204delinsCAT ENSP00000293780.4:n.*202_*204delinsCAT
ENST00000572438.1:n.1370_1372delinsCAT
NM_000080.3:c.*202_*204delinsCAT NP_000071.1:n.*202_*204delinsCAT
NM_000080.4:c.*202_*204delinsCAT MANE Select NP_000071.1:n.*202_*204delinsCAT
XM_017024115.1:c.*202_*204delinsCAT XP_016879604.1:n.*202_*204delinsCAT