Canonical Allele Identifier: CA9135083
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs763796481
gnomAD v2: 19-7117082-C-T
gnomAD v4: 19-7117071-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117071C>T , CM000681.2:g.7117071C>T GRCh38
NC_000019.9:g.7117082C>T , CM000681.1:g.7117082C>T GRCh37
NC_000019.8:g.7068082C>T NCBI36
NG_008852.2:g.181930G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.4134G>A MANE Select ENSP00000303830.4:p.Arg1378=
ENST00000302850.9:c.4134G>A ENSP00000303830.4:p.Arg1378=
ENST00000341500.9:c.4098G>A ENSP00000342838.4:p.Arg1366=
NM_000208.2:c.4134G>A NP_000199.2:p.Arg1378=
NM_000208.3:c.4134G>A NP_000199.2:p.Arg1378=
NM_001079817.1:c.4098G>A NP_001073285.1:p.Arg1366=
NM_001079817.2:c.4098G>A NP_001073285.1:p.Arg1366=
XM_011527988.1:c.4209G>A XP_011526290.1:p.Arg1403=
XM_011527989.1:c.4173G>A XP_011526291.1:p.Arg1391=
XM_011527988.2:c.4131G>A XP_011526290.2:p.Arg1377=
XM_011527989.3:c.4095G>A XP_011526291.2:p.Arg1365=
NM_000208.4:c.4134G>A MANE Select NP_000199.2:p.Arg1378=
NM_001079817.3:c.4098G>A NP_001073285.1:p.Arg1366=