Canonical Allele Identifier: CA505400254
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1258463004
gnomAD v2: 19-7125456-G-A
gnomAD v4: 19-7125445-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125445G>A , CM000681.2:g.7125445G>A GRCh38
NC_000019.9:g.7125456G>A , CM000681.1:g.7125456G>A GRCh37
NC_000019.8:g.7076456G>A NCBI36
NG_008852.2:g.173556C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3096C>T MANE Select ENSP00000303830.4:p.Gly1032=
ENST00000302850.9:c.3096C>T ENSP00000303830.4:p.Gly1032=
ENST00000341500.9:c.3060C>T ENSP00000342838.4:p.Gly1020=
NM_000208.2:c.3096C>T NP_000199.2:p.Gly1032=
NM_000208.3:c.3096C>T NP_000199.2:p.Gly1032=
NM_001079817.1:c.3060C>T NP_001073285.1:p.Gly1020=
NM_001079817.2:c.3060C>T NP_001073285.1:p.Gly1020=
XM_011527988.1:c.3171C>T XP_011526290.1:p.Gly1057=
XM_011527989.1:c.3135C>T XP_011526291.1:p.Gly1045=
XM_011527988.2:c.3093C>T XP_011526290.2:p.Gly1031=
XM_011527989.3:c.3057C>T XP_011526291.2:p.Gly1019=
NM_000208.4:c.3096C>T MANE Select NP_000199.2:p.Gly1032=
NM_001079817.3:c.3060C>T NP_001073285.1:p.Gly1020=