Canonical Allele Identifier: CA403666488
Gene: INSR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7166296C>A , CM000681.2:g.7166296C>A GRCh38
NC_000019.9:g.7166307C>A , CM000681.1:g.7166307C>A GRCh37
NC_000019.8:g.7117307C>A NCBI36
NG_008852.2:g.132705G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.1719G>T MANE Select ENSP00000303830.4:p.Gln573His
ENST00000302850.9:c.1719G>T ENSP00000303830.4:p.Gln573His
ENST00000341500.9:c.1719G>T ENSP00000342838.4:p.Gln573His
ENST00000598216.1:n.1694G>T
ENST00000600492.1:c.120G>T ENSP00000473170.1:p.Gln40His
NM_000208.2:c.1719G>T NP_000199.2:p.Gln573His
NM_000208.3:c.1719G>T NP_000199.2:p.Gln573His
NM_001079817.1:c.1719G>T NP_001073285.1:p.Gln573His
NM_001079817.2:c.1719G>T NP_001073285.1:p.Gln573His
XM_011527988.1:c.1797G>T XP_011526290.1:p.Gln599His
XM_011527989.1:c.1797G>T XP_011526291.1:p.Gln599His
XM_011527988.2:c.1719G>T XP_011526290.2:p.Gln573His
XM_011527989.3:c.1719G>T XP_011526291.2:p.Gln573His
NM_000208.4:c.1719G>T MANE Select NP_000199.2:p.Gln573His
NM_001079817.3:c.1719G>T NP_001073285.1:p.Gln573His