Canonical Allele Identifier: CA2733115353
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs2151091856

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898134_4898135del , CM000679.2:g.4898134_4898135del GRCh38
NC_000017.10:g.4801429_4801430del , CM000679.1:g.4801429_4801430del GRCh37
NC_000017.9:g.4742208_4742209del NCBI36
NG_008029.2:g.9941_9942del
NG_028005.1:g.69795_69796del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*601_*602del MANE Select ENSP00000497829.1:n.*601_*602del
ENST00000649830.1:c.*719_*720del ENSP00000496907.1:n.*719_*720del
ENST00000652550.1:n.1809_1810del
ENST00000293780.4:c.*601_*602del ENSP00000293780.4:n.*601_*602del
ENST00000572438.1:n.1769_1770del
NM_000080.3:c.*601_*602del NP_000071.1:n.*601_*602del
NM_000080.4:c.*601_*602del MANE Select NP_000071.1:n.*601_*602del
XM_017024115.1:c.*601_*602del XP_016879604.1:n.*601_*602del