Canonical Allele Identifier: CA403666671
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7166379-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7166379C>A , CM000681.2:g.7166379C>A GRCh38
NC_000019.9:g.7166390C>A , CM000681.1:g.7166390C>A GRCh37
NC_000019.8:g.7117390C>A NCBI36
NG_008852.2:g.132622G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1636G>T MANE Select ENSP00000303830.4:p.Asp546Tyr
ENST00000302850.9:c.1636G>T ENSP00000303830.4:p.Asp546Tyr
ENST00000341500.9:c.1636G>T ENSP00000342838.4:p.Asp546Tyr
ENST00000598216.1:n.1611G>T
ENST00000600492.1:c.37G>T ENSP00000473170.1:p.Asp13Tyr
NM_000208.2:c.1636G>T NP_000199.2:p.Asp546Tyr
NM_000208.3:c.1636G>T NP_000199.2:p.Asp546Tyr
NM_001079817.1:c.1636G>T NP_001073285.1:p.Asp546Tyr
NM_001079817.2:c.1636G>T NP_001073285.1:p.Asp546Tyr
XM_011527988.1:c.1714G>T XP_011526290.1:p.Asp572Tyr
XM_011527989.1:c.1714G>T XP_011526291.1:p.Asp572Tyr
XM_011527988.2:c.1636G>T XP_011526290.2:p.Asp546Tyr
XM_011527989.3:c.1636G>T XP_011526291.2:p.Asp546Tyr
NM_000208.4:c.1636G>T MANE Select NP_000199.2:p.Asp546Tyr
NM_001079817.3:c.1636G>T NP_001073285.1:p.Asp546Tyr