Canonical Allele Identifier: CA403671193
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7125389-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125389T>G , CM000681.2:g.7125389T>G GRCh38
NC_000019.9:g.7125400T>G , CM000681.1:g.7125400T>G GRCh37
NC_000019.8:g.7076400T>G NCBI36
NG_008852.2:g.173612A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3152A>C MANE Select ENSP00000303830.4:p.Glu1051Ala
ENST00000302850.9:c.3152A>C ENSP00000303830.4:p.Glu1051Ala
ENST00000341500.9:c.3116A>C ENSP00000342838.4:p.Glu1039Ala
NM_000208.2:c.3152A>C NP_000199.2:p.Glu1051Ala
NM_000208.3:c.3152A>C NP_000199.2:p.Glu1051Ala
NM_001079817.1:c.3116A>C NP_001073285.1:p.Glu1039Ala
NM_001079817.2:c.3116A>C NP_001073285.1:p.Glu1039Ala
XM_011527988.1:c.3227A>C XP_011526290.1:p.Glu1076Ala
XM_011527989.1:c.3191A>C XP_011526291.1:p.Glu1064Ala
XM_011527988.2:c.3149A>C XP_011526290.2:p.Glu1050Ala
XM_011527989.3:c.3113A>C XP_011526291.2:p.Glu1038Ala
NM_000208.4:c.3152A>C MANE Select NP_000199.2:p.Glu1051Ala
NM_001079817.3:c.3116A>C NP_001073285.1:p.Glu1039Ala