Canonical Allele Identifier: CA9135079
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs763002346
gnomAD v2: 19-7117066-G-A
gnomAD v3: 19-7117055-G-A
gnomAD v4: 19-7117055-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117055G>A , CM000681.2:g.7117055G>A GRCh38
NC_000019.9:g.7117066G>A , CM000681.1:g.7117066G>A GRCh37
NC_000019.8:g.7068066G>A NCBI36
NG_008852.2:g.181946C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.*1C>T MANE Select ENSP00000303830.4:n.*1C>T
ENST00000302850.9:c.*1C>T ENSP00000303830.4:n.*1C>T
ENST00000341500.9:c.*1C>T ENSP00000342838.4:n.*1C>T
NM_000208.2:c.*1C>T NP_000199.2:n.*1C>T
NM_000208.3:c.*1C>T NP_000199.2:n.*1C>T
NM_001079817.1:c.*1C>T NP_001073285.1:n.*1C>T
NM_001079817.2:c.*1C>T NP_001073285.1:n.*1C>T
XM_011527988.1:c.*1C>T XP_011526290.1:n.*1C>T
XM_011527989.1:c.*1C>T XP_011526291.1:n.*1C>T
XM_011527988.2:c.*1C>T XP_011526290.2:n.*1C>T
XM_011527989.3:c.*1C>T XP_011526291.2:n.*1C>T
NM_000208.4:c.*1C>T MANE Select NP_000199.2:n.*1C>T
NM_001079817.3:c.*1C>T NP_001073285.1:n.*1C>T