Canonical Allele Identifier: CA2245821952
Gene: CHRNB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7454622_7454623delinsGT , CM000679.2:g.7454622_7454623delinsGT GRCh38
NC_000017.10:g.7357941_7357942delinsGT , CM000679.1:g.7357941_7357942delinsGT GRCh37
NC_000017.9:g.7298665_7298666delinsGT NCBI36
NG_008026.1:g.14536_14537delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000306071.7:c.1044+102_1044+103delinsGT MANE Select ENSP00000304290.2:n.1044+102_1044+103delinsGT
ENST00000306071.6:c.1044+102_1044+103delinsGT ENSP00000304290.2:n.1044+102_1044+103delinsGT
ENST00000536404.6:c.828+102_828+103delinsGT ENSP00000439209.2:n.828+102_828+103delinsGT
ENST00000570557.5:c.707+102_707+103delinsGT
ENST00000573209.1:n.1988+102_1988+103delinsGT
ENST00000576360.1:c.681+102_681+103delinsGT ENSP00000459092.1:n.681+102_681+103delinsGT
NM_000747.2:c.1044+102_1044+103delinsGT NP_000738.2:n.1044+102_1044+103delinsGT
NM_000747.3:c.1044+102_1044+103delinsGT MANE Select NP_000738.2:n.1044+102_1044+103delinsGT