Canonical Allele Identifier: CA9135994
Gene: INSR HGNC NCBI

Linked Data

dbSNP Id: rs144645940
gnomAD v2: 19-7184427-T-G
gnomAD v3: 19-7184416-T-G
gnomAD v4: 19-7184416-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7184416T>G , CM000681.2:g.7184416T>G GRCh38
NC_000019.9:g.7184427T>G , CM000681.1:g.7184427T>G GRCh37
NC_000019.8:g.7135427T>G NCBI36
NG_008852.2:g.114585A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.874A>C MANE Select ENSP00000303830.4:p.Lys292Gln
ENST00000302850.9:c.874A>C ENSP00000303830.4:p.Lys292Gln
ENST00000341500.9:c.874A>C ENSP00000342838.4:p.Lys292Gln
ENST00000598216.1:n.849A>C
NM_000208.2:c.874A>C NP_000199.2:p.Lys292Gln
NM_000208.3:c.874A>C NP_000199.2:p.Lys292Gln
NM_001079817.1:c.874A>C NP_001073285.1:p.Lys292Gln
NM_001079817.2:c.874A>C NP_001073285.1:p.Lys292Gln
XM_011527988.1:c.952A>C XP_011526290.1:p.Lys318Gln
XM_011527989.1:c.952A>C XP_011526291.1:p.Lys318Gln
XM_011527988.2:c.874A>C XP_011526290.2:p.Lys292Gln
XM_011527989.3:c.874A>C XP_011526291.2:p.Lys292Gln
NM_000208.4:c.874A>C MANE Select NP_000199.2:p.Lys292Gln
NM_001079817.3:c.874A>C NP_001073285.1:p.Lys292Gln