Canonical Allele Identifier: CA403668437
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7117171-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117171C>A , CM000681.2:g.7117171C>A GRCh38
NC_000019.9:g.7117182C>A , CM000681.1:g.7117182C>A GRCh37
NC_000019.8:g.7068182C>A NCBI36
NG_008852.2:g.181830G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.4034G>T MANE Select ENSP00000303830.4:p.Gly1345Val
ENST00000302850.9:c.4034G>T ENSP00000303830.4:p.Gly1345Val
ENST00000341500.9:c.3998G>T ENSP00000342838.4:p.Gly1333Val
NM_000208.2:c.4034G>T NP_000199.2:p.Gly1345Val
NM_000208.3:c.4034G>T NP_000199.2:p.Gly1345Val
NM_001079817.1:c.3998G>T NP_001073285.1:p.Gly1333Val
NM_001079817.2:c.3998G>T NP_001073285.1:p.Gly1333Val
XM_011527988.1:c.4109G>T XP_011526290.1:p.Gly1370Val
XM_011527989.1:c.4073G>T XP_011526291.1:p.Gly1358Val
XM_011527988.2:c.4031G>T XP_011526290.2:p.Gly1344Val
XM_011527989.3:c.3995G>T XP_011526291.2:p.Gly1332Val
NM_000208.4:c.4034G>T MANE Select NP_000199.2:p.Gly1345Val
NM_001079817.3:c.3998G>T NP_001073285.1:p.Gly1333Val