Canonical Allele Identifier: CA403671409
Gene: INSR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125491T>G , CM000681.2:g.7125491T>G GRCh38
NC_000019.9:g.7125502T>G , CM000681.1:g.7125502T>G GRCh37
NC_000019.8:g.7076502T>G NCBI36
NG_008852.2:g.173510A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3050A>C MANE Select ENSP00000303830.4:p.Glu1017Ala
ENST00000302850.9:c.3050A>C ENSP00000303830.4:p.Glu1017Ala
ENST00000341500.9:c.3014A>C ENSP00000342838.4:p.Glu1005Ala
NM_000208.2:c.3050A>C NP_000199.2:p.Glu1017Ala
NM_000208.3:c.3050A>C NP_000199.2:p.Glu1017Ala
NM_001079817.1:c.3014A>C NP_001073285.1:p.Glu1005Ala
NM_001079817.2:c.3014A>C NP_001073285.1:p.Glu1005Ala
XM_011527988.1:c.3125A>C XP_011526290.1:p.Glu1042Ala
XM_011527989.1:c.3089A>C XP_011526291.1:p.Glu1030Ala
XM_011527988.2:c.3047A>C XP_011526290.2:p.Glu1016Ala
XM_011527989.3:c.3011A>C XP_011526291.2:p.Glu1004Ala
NM_000208.4:c.3050A>C MANE Select NP_000199.2:p.Glu1017Ala
NM_001079817.3:c.3014A>C NP_001073285.1:p.Glu1005Ala