Canonical Allele Identifier: CA9135985
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 330474
dbSNP Id: rs9282757
gnomAD v2: 19-7184392-C-T
gnomAD v3: 19-7184381-C-T
gnomAD v4: 19-7184381-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7184381C>T , CM000681.2:g.7184381C>T GRCh38
NC_000019.9:g.7184392C>T , CM000681.1:g.7184392C>T GRCh37
NC_000019.8:g.7135392C>T NCBI36
NG_008852.2:g.114620G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.909G>A MANE Select ENSP00000303830.4:p.Gln303=
ENST00000302850.9:c.909G>A ENSP00000303830.4:p.Gln303=
ENST00000341500.9:c.909G>A ENSP00000342838.4:p.Gln303=
ENST00000598216.1:n.884G>A
NM_000208.2:c.909G>A NP_000199.2:p.Gln303=
NM_000208.3:c.909G>A NP_000199.2:p.Gln303=
NM_001079817.1:c.909G>A NP_001073285.1:p.Gln303=
NM_001079817.2:c.909G>A NP_001073285.1:p.Gln303=
XM_011527988.1:c.987G>A XP_011526290.1:p.Gln329=
XM_011527989.1:c.987G>A XP_011526291.1:p.Gln329=
XM_011527988.2:c.909G>A XP_011526290.2:p.Gln303=
XM_011527989.3:c.909G>A XP_011526291.2:p.Gln303=
NM_000208.4:c.909G>A MANE Select NP_000199.2:p.Gln303=
NM_001079817.3:c.909G>A NP_001073285.1:p.Gln303=