Canonical Allele Identifier: CA9135064
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs374974617
gnomAD v2: 19-7117024-C-T
gnomAD v3: 19-7117013-C-T
gnomAD v4: 19-7117013-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117013C>T , CM000681.2:g.7117013C>T GRCh38
NC_000019.9:g.7117024C>T , CM000681.1:g.7117024C>T GRCh37
NC_000019.8:g.7068024C>T NCBI36
NG_008852.2:g.181988G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.*43G>A MANE Select ENSP00000303830.4:n.*43G>A
ENST00000302850.9:c.*43G>A ENSP00000303830.4:n.*43G>A
ENST00000341500.9:c.*43G>A ENSP00000342838.4:n.*43G>A
NM_000208.2:c.*43G>A NP_000199.2:n.*43G>A
NM_000208.3:c.*43G>A NP_000199.2:n.*43G>A
NM_001079817.1:c.*43G>A NP_001073285.1:n.*43G>A
NM_001079817.2:c.*43G>A NP_001073285.1:n.*43G>A
XM_011527988.1:c.*43G>A XP_011526290.1:n.*43G>A
XM_011527989.1:c.*43G>A XP_011526291.1:n.*43G>A
XM_011527988.2:c.*43G>A XP_011526290.2:n.*43G>A
XM_011527989.3:c.*43G>A XP_011526291.2:n.*43G>A
NM_000208.4:c.*43G>A MANE Select NP_000199.2:n.*43G>A
NM_001079817.3:c.*43G>A NP_001073285.1:n.*43G>A