Canonical Allele Identifier: CA403671104
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1324279061
gnomAD v2: 19-7125356-G-A
gnomAD v4: 19-7125345-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125345G>A , CM000681.2:g.7125345G>A GRCh38
NC_000019.9:g.7125356G>A , CM000681.1:g.7125356G>A GRCh37
NC_000019.8:g.7076356G>A NCBI36
NG_008852.2:g.173656C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.3196C>T MANE Select ENSP00000303830.4:p.Arg1066Ter
ENST00000302850.9:c.3196C>T ENSP00000303830.4:p.Arg1066Ter
ENST00000341500.9:c.3160C>T ENSP00000342838.4:p.Arg1054Ter
ENST00000593970.1:n.42C>T
NM_000208.2:c.3196C>T NP_000199.2:p.Arg1066Ter
NM_000208.3:c.3196C>T NP_000199.2:p.Arg1066Ter
NM_001079817.1:c.3160C>T NP_001073285.1:p.Arg1054Ter
NM_001079817.2:c.3160C>T NP_001073285.1:p.Arg1054Ter
XM_011527988.1:c.3271C>T XP_011526290.1:p.Arg1091Ter
XM_011527989.1:c.3235C>T XP_011526291.1:p.Arg1079Ter
XM_011527988.2:c.3193C>T XP_011526290.2:p.Arg1065Ter
XM_011527989.3:c.3157C>T XP_011526291.2:p.Arg1053Ter
NM_000208.4:c.3196C>T MANE Select NP_000199.2:p.Arg1066Ter
NM_001079817.3:c.3160C>T NP_001073285.1:p.Arg1054Ter