Canonical Allele Identifier: CA403667122
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1973994472
gnomAD v3: 19-7170572-T-A
gnomAD v4: 19-7170572-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7170572T>A , CM000681.2:g.7170572T>A GRCh38
NC_000019.9:g.7170583T>A , CM000681.1:g.7170583T>A GRCh37
NC_000019.8:g.7121583T>A NCBI36
NG_008852.2:g.128429A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1448A>T MANE Select ENSP00000303830.4:p.Asp483Val
ENST00000302850.9:c.1448A>T ENSP00000303830.4:p.Asp483Val
ENST00000341500.9:c.1448A>T ENSP00000342838.4:p.Asp483Val
ENST00000598216.1:n.1423A>T
NM_000208.2:c.1448A>T NP_000199.2:p.Asp483Val
NM_000208.3:c.1448A>T NP_000199.2:p.Asp483Val
NM_001079817.1:c.1448A>T NP_001073285.1:p.Asp483Val
NM_001079817.2:c.1448A>T NP_001073285.1:p.Asp483Val
XM_011527988.1:c.1526A>T XP_011526290.1:p.Asp509Val
XM_011527989.1:c.1526A>T XP_011526291.1:p.Asp509Val
XM_011527988.2:c.1448A>T XP_011526290.2:p.Asp483Val
XM_011527989.3:c.1448A>T XP_011526291.2:p.Asp483Val
NM_000208.4:c.1448A>T MANE Select NP_000199.2:p.Asp483Val
NM_001079817.3:c.1448A>T NP_001073285.1:p.Asp483Val