Canonical Allele Identifier: CA403668847
Gene: INSR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117351T>G , CM000681.2:g.7117351T>G GRCh38
NC_000019.9:g.7117362T>G , CM000681.1:g.7117362T>G GRCh37
NC_000019.8:g.7068362T>G NCBI36
NG_008852.2:g.181650A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3854A>C MANE Select ENSP00000303830.4:p.Glu1285Ala
ENST00000302850.9:c.3854A>C ENSP00000303830.4:p.Glu1285Ala
ENST00000341500.9:c.3818A>C ENSP00000342838.4:p.Glu1273Ala
NM_000208.2:c.3854A>C NP_000199.2:p.Glu1285Ala
NM_000208.3:c.3854A>C NP_000199.2:p.Glu1285Ala
NM_001079817.1:c.3818A>C NP_001073285.1:p.Glu1273Ala
NM_001079817.2:c.3818A>C NP_001073285.1:p.Glu1273Ala
XM_011527988.1:c.3929A>C XP_011526290.1:p.Glu1310Ala
XM_011527989.1:c.3893A>C XP_011526291.1:p.Glu1298Ala
XM_011527988.2:c.3851A>C XP_011526290.2:p.Glu1284Ala
XM_011527989.3:c.3815A>C XP_011526291.2:p.Glu1272Ala
NM_000208.4:c.3854A>C MANE Select NP_000199.2:p.Glu1285Ala
NM_001079817.3:c.3818A>C NP_001073285.1:p.Glu1273Ala