Canonical Allele Identifier: CA2808296164
Gene: CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898729_4898733del , CM000679.2:g.4898729_4898733del GRCh38
NC_000017.10:g.4802024_4802028del , CM000679.1:g.4802024_4802028del GRCh37
NC_000017.9:g.4742803_4742807del NCBI36
NG_008029.2:g.9345_9349del
NG_028005.1:g.70390_70394del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*5_*9del MANE Select ENSP00000497829.1:n.*5_*9del
ENST00000649830.1:c.*123_*127del ENSP00000496907.1:n.*123_*127del
ENST00000652550.1:n.1213_1217del
ENST00000293780.4:c.*5_*9del ENSP00000293780.4:n.*5_*9del
ENST00000572438.1:n.1173_1177del
NM_000080.3:c.*5_*9del NP_000071.1:n.*5_*9del
NM_000080.4:c.*5_*9del MANE Select NP_000071.1:n.*5_*9del
XM_017024115.1:c.*5_*9del XP_016879604.1:n.*5_*9del