Canonical Allele Identifier: CA124229
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 14690
ClinVar RCV Id: RCV000015805
dbSNP Id: rs121913142
MyVariant Identifiers: chr19:g.7172344A>C (hg19) chr19:g.7172333A>C (hg38)
PubMed: PMID:2573522 PMID:2884728 PMID:4413914 PMID:27896077
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7172333A>C , CM000681.2:g.7172333A>C GRCh38
NC_000019.9:g.7172344A>C , CM000681.1:g.7172344A>C GRCh37
NC_000019.8:g.7123344A>C NCBI36
NG_008852.2:g.126668T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.1225T>G MANE Select ENSP00000303830.4:p.Phe409Val
ENST00000302850.9:c.1225T>G ENSP00000303830.4:p.Phe409Val
ENST00000341500.9:c.1225T>G ENSP00000342838.4:p.Phe409Val
ENST00000598216.1:n.1200T>G
NM_000208.2:c.1225T>G NP_000199.2:p.Phe409Val
NM_000208.3:c.1225T>G NP_000199.2:p.Phe409Val
NM_001079817.1:c.1225T>G NP_001073285.1:p.Phe409Val
NM_001079817.2:c.1225T>G NP_001073285.1:p.Phe409Val
XM_011527988.1:c.1303T>G XP_011526290.1:p.Phe435Val
XM_011527989.1:c.1303T>G XP_011526291.1:p.Phe435Val
XM_011527988.2:c.1225T>G XP_011526290.2:p.Phe409Val
XM_011527989.3:c.1225T>G XP_011526291.2:p.Phe409Val
NM_000208.4:c.1225T>G MANE Select NP_000199.2:p.Phe409Val
NM_001079817.3:c.1225T>G NP_001073285.1:p.Phe409Val
Search 100 bp 5'
Search 100 bp 3'