Canonical Allele Identifier: CA9135999
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs768465467
gnomAD v2: 19-7184475-G-T
gnomAD v4: 19-7184464-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7184464G>T , CM000681.2:g.7184464G>T GRCh38
NC_000019.9:g.7184475G>T , CM000681.1:g.7184475G>T GRCh37
NC_000019.8:g.7135475G>T NCBI36
NG_008852.2:g.114537C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.826C>A MANE Select ENSP00000303830.4:p.Gln276Lys
ENST00000302850.9:c.826C>A ENSP00000303830.4:p.Gln276Lys
ENST00000341500.9:c.826C>A ENSP00000342838.4:p.Gln276Lys
ENST00000598216.1:n.801C>A
NM_000208.2:c.826C>A NP_000199.2:p.Gln276Lys
NM_000208.3:c.826C>A NP_000199.2:p.Gln276Lys
NM_001079817.1:c.826C>A NP_001073285.1:p.Gln276Lys
NM_001079817.2:c.826C>A NP_001073285.1:p.Gln276Lys
XM_011527988.1:c.904C>A XP_011526290.1:p.Gln302Lys
XM_011527989.1:c.904C>A XP_011526291.1:p.Gln302Lys
XM_011527988.2:c.826C>A XP_011526290.2:p.Gln276Lys
XM_011527989.3:c.826C>A XP_011526291.2:p.Gln276Lys
NM_000208.4:c.826C>A MANE Select NP_000199.2:p.Gln276Lys
NM_001079817.3:c.826C>A NP_001073285.1:p.Gln276Lys