Canonical Allele Identifier: CA9135090
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs747484349
gnomAD v2: 19-7117106-G-A
gnomAD v3: 19-7117095-G-A
gnomAD v4: 19-7117095-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117095G>A , CM000681.2:g.7117095G>A GRCh38
NC_000019.9:g.7117106G>A , CM000681.1:g.7117106G>A GRCh37
NC_000019.8:g.7068106G>A NCBI36
NG_008852.2:g.181906C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.4110C>T MANE Select ENSP00000303830.4:p.Asn1370=
ENST00000302850.9:c.4110C>T ENSP00000303830.4:p.Asn1370=
ENST00000341500.9:c.4074C>T ENSP00000342838.4:p.Asn1358=
NM_000208.2:c.4110C>T NP_000199.2:p.Asn1370=
NM_000208.3:c.4110C>T NP_000199.2:p.Asn1370=
NM_001079817.1:c.4074C>T NP_001073285.1:p.Asn1358=
NM_001079817.2:c.4074C>T NP_001073285.1:p.Asn1358=
XM_011527988.1:c.4185C>T XP_011526290.1:p.Asn1395=
XM_011527989.1:c.4149C>T XP_011526291.1:p.Asn1383=
XM_011527988.2:c.4107C>T XP_011526290.2:p.Asn1369=
XM_011527989.3:c.4071C>T XP_011526291.2:p.Asn1357=
NM_000208.4:c.4110C>T MANE Select NP_000199.2:p.Asn1370=
NM_001079817.3:c.4074C>T NP_001073285.1:p.Asn1358=