Canonical Allele Identifier: CA981193624
Gene: CHRNB1 HGNC NCBI

Linked Data

dbSNP Id: rs2069941305
gnomAD v3: 17-7455581-ACTC-A
gnomAD v4: 17-7455581-ACTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455584_7455586del , CM000679.2:g.7455584_7455586del GRCh38
NC_000017.10:g.7358903_7358905del , CM000679.1:g.7358903_7358905del GRCh37
NC_000017.9:g.7299627_7299629del NCBI36
NG_008026.1:g.15498_15500del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1217+128_1217+130del MANE Select ENSP00000304290.2:n.1217+128_1217+130del
ENST00000306071.6:c.1217+128_1217+130del ENSP00000304290.2:n.1217+128_1217+130del
ENST00000536404.6:c.1001+128_1001+130del ENSP00000439209.2:n.1001+128_1001+130del
ENST00000570557.5:c.880+128_880+130del
ENST00000573209.1:n.2289_2291del
ENST00000576360.1:c.854+128_854+130del ENSP00000459092.1:n.854+128_854+130del
NM_000747.2:c.1217+128_1217+130del NP_000738.2:n.1217+128_1217+130del
NM_000747.3:c.1217+128_1217+130del MANE Select NP_000738.2:n.1217+128_1217+130del
Search 100 bp 5'
Search 100 bp 3'