Canonical Allele Identifier: CA403669711
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7184357-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7184357G>T , CM000681.2:g.7184357G>T GRCh38
NC_000019.9:g.7184368G>T , CM000681.1:g.7184368G>T GRCh37
NC_000019.8:g.7135368G>T NCBI36
NG_008852.2:g.114644C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.933C>A MANE Select ENSP00000303830.4:p.Cys311Ter
ENST00000302850.9:c.933C>A ENSP00000303830.4:p.Cys311Ter
ENST00000341500.9:c.933C>A ENSP00000342838.4:p.Cys311Ter
ENST00000598216.1:n.908C>A
NM_000208.2:c.933C>A NP_000199.2:p.Cys311Ter
NM_000208.3:c.933C>A NP_000199.2:p.Cys311Ter
NM_001079817.1:c.933C>A NP_001073285.1:p.Cys311Ter
NM_001079817.2:c.933C>A NP_001073285.1:p.Cys311Ter
XM_011527988.1:c.1011C>A XP_011526290.1:p.Cys337Ter
XM_011527989.1:c.1011C>A XP_011526291.1:p.Cys337Ter
XM_011527988.2:c.933C>A XP_011526290.2:p.Cys311Ter
XM_011527989.3:c.933C>A XP_011526291.2:p.Cys311Ter
NM_000208.4:c.933C>A MANE Select NP_000199.2:p.Cys311Ter
NM_001079817.3:c.933C>A NP_001073285.1:p.Cys311Ter