Canonical Allele Identifier: CA2635577450
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898758-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898759dup , CM000679.2:g.4898759dup GRCh38
NC_000017.10:g.4802054dup , CM000679.1:g.4802054dup GRCh37
NC_000017.9:g.4742833dup NCBI36
NG_008029.2:g.9317dup
NG_028005.1:g.70420dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1459dup MANE Select ENSP00000497829.1:p.Tyr487LeufsTer28
ENST00000649830.1:c.*95dup ENSP00000496907.1:n.*95dup
ENST00000652550.1:n.1185dup
ENST00000293780.4:c.1459dup ENSP00000293780.4:p.Tyr487LeufsTer28
ENST00000572438.1:n.1145dup
NM_000080.3:c.1459dup NP_000071.1:p.Tyr487LeufsTer28
NM_000080.4:c.1459dup MANE Select NP_000071.1:p.Tyr487LeufsTer28
XM_017024115.1:c.1423dup XP_016879604.1:p.Tyr475LeufsTer28
Search 100 bp 5'
Search 100 bp 3'