Canonical Allele Identifier: CA2189589130
Gene: CHRNA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78586885_78586889delinsTTTGG , CM000677.2:g.78586885_78586889delinsTTTGG GRCh38
NC_000015.9:g.78879227_78879231delinsTTTGG , CM000677.1:g.78879227_78879231delinsTTTGG GRCh37
NC_000015.8:g.76666282_76666286delinsTTTGG NCBI36
NG_023328.1:g.26366_26370delinsTTTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.303+196_303+200delinsTTTGG MANE Select ENSP00000299565.5:n.303+196_303+200delinsTTTGG
ENST00000394802.4:c.118+196_118+200delinsTTTGG
ENST00000559554.5:c.303+196_303+200delinsTTTGG ENSP00000453519.1:n.303+196_303+200delinsTTTGG
NM_000745.3:c.303+196_303+200delinsTTTGG NP_000736.2:n.303+196_303+200delinsTTTGG
NM_001307945.1:c.303+196_303+200delinsTTTGG NP_001294874.1:n.303+196_303+200delinsTTTGG
XM_005254142.2:c.303+196_303+200delinsTTTGG XP_005254199.1:n.303+196_303+200delinsTTTGG
NM_001307945.2:c.303+196_303+200delinsTTTGG NP_001294874.1:n.303+196_303+200delinsTTTGG
NM_000745.4:c.303+196_303+200delinsTTTGG MANE Select NP_000736.2:n.303+196_303+200delinsTTTGG
NM_001395171.1:c.303+196_303+200delinsTTTGG NP_001382100.1:n.303+196_303+200delinsTTTGG
NM_001395172.1:c.303+196_303+200delinsTTTGG NP_001382101.1:n.303+196_303+200delinsTTTGG
NM_001395173.1:c.303+196_303+200delinsTTTGG NP_001382102.1:n.303+196_303+200delinsTTTGG
NM_001395174.1:c.303+196_303+200delinsTTTGG NP_001382103.1:n.303+196_303+200delinsTTTGG
NM_001395175.1:c.300+196_300+200delinsTTTGG NP_001382104.1:n.300+196_300+200delinsTTTGG