Canonical Allele Identifier: CA2808296104
Gene: CHRNE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898119_4898172del , CM000679.2:g.4898119_4898172del GRCh38
NC_000017.10:g.4801414_4801467del , CM000679.1:g.4801414_4801467del GRCh37
NC_000017.9:g.4742193_4742246del NCBI36
NG_008029.2:g.9911_9964del
NG_028005.1:g.69780_69833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*571_*624del MANE Select ENSP00000497829.1:n.*571_*624del
ENST00000649830.1:c.*689_*742del ENSP00000496907.1:n.*689_*742del
ENST00000652550.1:n.1779_1832del
ENST00000293780.4:c.*571_*624del ENSP00000293780.4:n.*571_*624del
ENST00000572438.1:n.1739_1792del
NM_000080.3:c.*571_*624del NP_000071.1:n.*571_*624del
NM_000080.4:c.*571_*624del MANE Select NP_000071.1:n.*571_*624del
XM_017024115.1:c.*571_*624del XP_016879604.1:n.*571_*624del