Canonical Allele Identifier: CA2245822408
Gene: CHRNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7455581_7455584delinsACTC , CM000679.2:g.7455581_7455584delinsACTC GRCh38
NC_000017.10:g.7358900_7358903delinsACTC , CM000679.1:g.7358900_7358903delinsACTC GRCh37
NC_000017.9:g.7299624_7299627delinsACTC NCBI36
NG_008026.1:g.15495_15498delinsACTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1217+125_1217+128delinsACTC MANE Select ENSP00000304290.2:n.1217+125_1217+128delinsACTC
ENST00000306071.6:c.1217+125_1217+128delinsACTC ENSP00000304290.2:n.1217+125_1217+128delinsACTC
ENST00000536404.6:c.1001+125_1001+128delinsACTC ENSP00000439209.2:n.1001+125_1001+128delinsACTC
ENST00000570557.5:c.880+125_880+128delinsACTC
ENST00000573209.1:n.2286_2289delinsACTC
ENST00000576360.1:c.854+125_854+128delinsACTC ENSP00000459092.1:n.854+125_854+128delinsACTC
NM_000747.2:c.1217+125_1217+128delinsACTC NP_000738.2:n.1217+125_1217+128delinsACTC
NM_000747.3:c.1217+125_1217+128delinsACTC MANE Select NP_000738.2:n.1217+125_1217+128delinsACTC