Canonical Allele Identifier: CA403671367
Gene: INSR HGNC NCBI

Linked Data

gnomAD v4: 19-7125471-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7125471T>C , CM000681.2:g.7125471T>C GRCh38
NC_000019.9:g.7125482T>C , CM000681.1:g.7125482T>C GRCh37
NC_000019.8:g.7076482T>C NCBI36
NG_008852.2:g.173530A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.3070A>G MANE Select ENSP00000303830.4:p.Thr1024Ala
ENST00000302850.9:c.3070A>G ENSP00000303830.4:p.Thr1024Ala
ENST00000341500.9:c.3034A>G ENSP00000342838.4:p.Thr1012Ala
NM_000208.2:c.3070A>G NP_000199.2:p.Thr1024Ala
NM_000208.3:c.3070A>G NP_000199.2:p.Thr1024Ala
NM_001079817.1:c.3034A>G NP_001073285.1:p.Thr1012Ala
NM_001079817.2:c.3034A>G NP_001073285.1:p.Thr1012Ala
XM_011527988.1:c.3145A>G XP_011526290.1:p.Thr1049Ala
XM_011527989.1:c.3109A>G XP_011526291.1:p.Thr1037Ala
XM_011527988.2:c.3067A>G XP_011526290.2:p.Thr1023Ala
XM_011527989.3:c.3031A>G XP_011526291.2:p.Thr1011Ala
NM_000208.4:c.3070A>G MANE Select NP_000199.2:p.Thr1024Ala
NM_001079817.3:c.3034A>G NP_001073285.1:p.Thr1012Ala