Canonical Allele Identifier: CA9135419
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs142702367
gnomAD v2: 19-7128919-G-A
gnomAD v3: 19-7128908-G-A
gnomAD v4: 19-7128908-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7128908G>A , CM000681.2:g.7128908G>A GRCh38
NC_000019.9:g.7128919G>A , CM000681.1:g.7128919G>A GRCh37
NC_000019.8:g.7079919G>A NCBI36
NG_008852.2:g.170093C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2889C>T MANE Select ENSP00000303830.4:p.Ile963=
ENST00000302850.9:c.2889C>T ENSP00000303830.4:p.Ile963=
ENST00000341500.9:c.2853C>T ENSP00000342838.4:p.Ile951=
NM_000208.2:c.2889C>T NP_000199.2:p.Ile963=
NM_000208.3:c.2889C>T NP_000199.2:p.Ile963=
NM_001079817.1:c.2853C>T NP_001073285.1:p.Ile951=
NM_001079817.2:c.2853C>T NP_001073285.1:p.Ile951=
XM_011527988.1:c.2964C>T XP_011526290.1:p.Ile988=
XM_011527989.1:c.2928C>T XP_011526291.1:p.Ile976=
XM_011527988.2:c.2886C>T XP_011526290.2:p.Ile962=
XM_011527989.3:c.2850C>T XP_011526291.2:p.Ile950=
NM_000208.4:c.2889C>T MANE Select NP_000199.2:p.Ile963=
NM_001079817.3:c.2853C>T NP_001073285.1:p.Ile951=