Canonical Allele Identifier: CA124231
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 14691
ClinVar RCV Id: RCV000015806
dbSNP Id: rs121913143
MyVariant Identifiers: chr19:g.7267882G>T (hg19) chr19:g.7267871G>T (hg38)
PubMed: PMID:2121734 PMID:2365819 PMID:3721065 PMID:27896077
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7267871G>T , CM000681.2:g.7267871G>T GRCh38
NC_000019.9:g.7267882G>T , CM000681.1:g.7267882G>T GRCh37
NC_000019.8:g.7218882G>T NCBI36
NG_008852.2:g.31130C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.126C>A MANE Select ENSP00000303830.4:p.Asn42Lys
ENST00000302850.9:c.126C>A ENSP00000303830.4:p.Asn42Lys
ENST00000341500.9:c.126C>A ENSP00000342838.4:p.Asn42Lys
ENST00000598216.1:n.101C>A
NM_000208.2:c.126C>A NP_000199.2:p.Asn42Lys
NM_000208.3:c.126C>A NP_000199.2:p.Asn42Lys
NM_001079817.1:c.126C>A NP_001073285.1:p.Asn42Lys
NM_001079817.2:c.126C>A NP_001073285.1:p.Asn42Lys
XM_011527988.1:c.204C>A XP_011526290.1:p.Asn68Lys
XM_011527989.1:c.204C>A XP_011526291.1:p.Asn68Lys
XM_011527988.2:c.126C>A XP_011526290.2:p.Asn42Lys
XM_011527989.3:c.126C>A XP_011526291.2:p.Asn42Lys
NM_000208.4:c.126C>A MANE Select NP_000199.2:p.Asn42Lys
NM_001079817.3:c.126C>A NP_001073285.1:p.Asn42Lys
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