Canonical Allele Identifier: CA993113743
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs1972345084
gnomAD v3: 19-7117004-A-G
gnomAD v4: 19-7117004-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7117004A>G , CM000681.2:g.7117004A>G GRCh38
NC_000019.9:g.7117015A>G , CM000681.1:g.7117015A>G GRCh37
NC_000019.8:g.7068015A>G NCBI36
NG_008852.2:g.181997T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.*52T>C MANE Select ENSP00000303830.4:n.*52T>C
ENST00000302850.9:c.*52T>C ENSP00000303830.4:n.*52T>C
ENST00000341500.9:c.*52T>C ENSP00000342838.4:n.*52T>C
NM_000208.2:c.*52T>C NP_000199.2:n.*52T>C
NM_000208.3:c.*52T>C NP_000199.2:n.*52T>C
NM_001079817.1:c.*52T>C NP_001073285.1:n.*52T>C
NM_001079817.2:c.*52T>C NP_001073285.1:n.*52T>C
XM_011527988.1:c.*52T>C XP_011526290.1:n.*52T>C
XM_011527989.1:c.*52T>C XP_011526291.1:n.*52T>C
XM_011527988.2:c.*52T>C XP_011526290.2:n.*52T>C
XM_011527989.3:c.*52T>C XP_011526291.2:n.*52T>C
NM_000208.4:c.*52T>C MANE Select NP_000199.2:n.*52T>C
NM_001079817.3:c.*52T>C NP_001073285.1:n.*52T>C