Canonical Allele Identifier: CA505217371
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1415501212
gnomAD v2: 19-7128880-A-G
gnomAD v4: 19-7128869-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7128869A>G , CM000681.2:g.7128869A>G GRCh38
NC_000019.9:g.7128880A>G , CM000681.1:g.7128880A>G GRCh37
NC_000019.8:g.7079880A>G NCBI36
NG_008852.2:g.170132T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2928T>C MANE Select ENSP00000303830.4:p.Tyr976=
ENST00000302850.9:c.2928T>C ENSP00000303830.4:p.Tyr976=
ENST00000341500.9:c.2892T>C ENSP00000342838.4:p.Tyr964=
NM_000208.2:c.2928T>C NP_000199.2:p.Tyr976=
NM_000208.3:c.2928T>C NP_000199.2:p.Tyr976=
NM_001079817.1:c.2892T>C NP_001073285.1:p.Tyr964=
NM_001079817.2:c.2892T>C NP_001073285.1:p.Tyr964=
XM_011527988.1:c.3003T>C XP_011526290.1:p.Tyr1001=
XM_011527989.1:c.2967T>C XP_011526291.1:p.Tyr989=
XM_011527988.2:c.2925T>C XP_011526290.2:p.Tyr975=
XM_011527989.3:c.2889T>C XP_011526291.2:p.Tyr963=
NM_000208.4:c.2928T>C MANE Select NP_000199.2:p.Tyr976=
NM_001079817.3:c.2892T>C NP_001073285.1:p.Tyr964=