Canonical Allele Identifier: CA124221
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 14684
ClinVar RCV Id: RCV000015798
dbSNP Id: rs121913138
MyVariant Identifiers: chr19:g.7143083C>A (hg19) chr19:g.7143072C>A (hg38)
PubMed: PMID:3283938 PMID:3384956 PMID:6339538 PMID:13302174 PMID:27896077
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7143072C>A , CM000681.2:g.7143072C>A GRCh38
NC_000019.9:g.7143083C>A , CM000681.1:g.7143083C>A GRCh37
NC_000019.8:g.7094083C>A NCBI36
NG_008852.2:g.155929G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2286G>T MANE Select ENSP00000303830.4:p.Arg762Ser
ENST00000302850.9:c.2286G>T ENSP00000303830.4:p.Arg762Ser
ENST00000341500.9:c.2250G>T ENSP00000342838.4:p.Arg750Ser
NM_000208.2:c.2286G>T NP_000199.2:p.Arg762Ser
NM_000208.3:c.2286G>T NP_000199.2:p.Arg762Ser
NM_001079817.1:c.2250G>T NP_001073285.1:p.Arg750Ser
NM_001079817.2:c.2250G>T NP_001073285.1:p.Arg750Ser
XM_011527988.1:c.2364G>T XP_011526290.1:p.Arg788Ser
XM_011527989.1:c.2328G>T XP_011526291.1:p.Arg776Ser
XM_011527988.2:c.2286G>T XP_011526290.2:p.Arg762Ser
XM_011527989.3:c.2250G>T XP_011526291.2:p.Arg750Ser
NM_000208.4:c.2286G>T MANE Select NP_000199.2:p.Arg762Ser
NM_001079817.3:c.2250G>T NP_001073285.1:p.Arg750Ser
Search 100 bp 5'
Search 100 bp 3'