Canonical Allele Identifier: CA2635577470
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898769-A-AGATACAC
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898770_4898771insATACACG , CM000679.2:g.4898770_4898771insATACACG GRCh38
NC_000017.10:g.4802065_4802066insATACACG , CM000679.1:g.4802065_4802066insATACACG GRCh37
NC_000017.9:g.4742844_4742845insATACACG NCBI36
NG_008029.2:g.9306_9307insGTGTATC
NG_028005.1:g.70431_70432insATACACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1448_1449insGTGTATC MANE Select ENSP00000497829.1:p.Asp484CysfsTer3
ENST00000649830.1:c.*84_*85insGTGTATC ENSP00000496907.1:n.*84_*85insGTGTATC
ENST00000652550.1:n.1174_1175insGTGTATC
ENST00000293780.4:c.1448_1449insGTGTATC ENSP00000293780.4:p.Asp484CysfsTer3
ENST00000572438.1:n.1134_1135insGTGTATC
NM_000080.3:c.1448_1449insGTGTATC NP_000071.1:p.Asp484CysfsTer3
NM_000080.4:c.1448_1449insGTGTATC MANE Select NP_000071.1:p.Asp484CysfsTer3
XM_017024115.1:c.1412_1413insGTGTATC XP_016879604.1:p.Asp472CysfsTer3
Search 100 bp 5'
Search 100 bp 3'