Canonical Allele Identifier: CA2576135513
Gene: CHRNE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898739_4898741del , CM000679.2:g.4898739_4898741del GRCh38
NC_000017.10:g.4802034_4802036del , CM000679.1:g.4802034_4802036del GRCh37
NC_000017.9:g.4742813_4742815del NCBI36
NG_008029.2:g.9335_9337del
NG_028005.1:g.70400_70402del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1477_1479del MANE Select ENSP00000497829.1:p.Pro493del
ENST00000649830.1:c.*113_*115del ENSP00000496907.1:n.*113_*115del
ENST00000652550.1:n.1203_1205del
ENST00000293780.4:c.1477_1479del ENSP00000293780.4:p.Pro493del
ENST00000572438.1:n.1163_1165del
NM_000080.3:c.1477_1479del NP_000071.1:p.Pro493del
NM_000080.4:c.1477_1479del MANE Select NP_000071.1:p.Pro493del
XM_017024115.1:c.1441_1443del XP_016879604.1:p.Pro481del
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