Canonical Allele Identifier: CA403671064
Gene: INSR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125327G>A , CM000681.2:g.7125327G>A GRCh38
NC_000019.9:g.7125338G>A , CM000681.1:g.7125338G>A GRCh37
NC_000019.8:g.7076338G>A NCBI36
NG_008852.2:g.173674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3214C>T MANE Select ENSP00000303830.4:p.Leu1072Phe
ENST00000302850.9:c.3214C>T ENSP00000303830.4:p.Leu1072Phe
ENST00000341500.9:c.3178C>T ENSP00000342838.4:p.Leu1060Phe
ENST00000593970.1:n.60C>T
NM_000208.2:c.3214C>T NP_000199.2:p.Leu1072Phe
NM_000208.3:c.3214C>T NP_000199.2:p.Leu1072Phe
NM_001079817.1:c.3178C>T NP_001073285.1:p.Leu1060Phe
NM_001079817.2:c.3178C>T NP_001073285.1:p.Leu1060Phe
XM_011527988.1:c.3289C>T XP_011526290.1:p.Leu1097Phe
XM_011527989.1:c.3253C>T XP_011526291.1:p.Leu1085Phe
XM_011527988.2:c.3211C>T XP_011526290.2:p.Leu1071Phe
XM_011527989.3:c.3175C>T XP_011526291.2:p.Leu1059Phe
NM_000208.4:c.3214C>T MANE Select NP_000199.2:p.Leu1072Phe
NM_001079817.3:c.3178C>T NP_001073285.1:p.Leu1060Phe