Canonical Allele Identifier: CA124273

Gene: INSR

Linked Data

• ClinVar Variation Id: 14712
• ClinVar RCV Id: RCV000015827
• dbSNP Id: rs587776819
• MyVariant Identifiers: chr19:g.7172447T>C (hg19) ; chr19:g.7172436T>C (hg38)
• PubMed: PMID:2233914 ; PMID:9449692 ; PMID:27896077

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7172436T>C , CM000681.2:g.7172436T>C	GRCh38
NC_000019.9:g.7172447T>C , CM000681.1:g.7172447T>C	GRCh37
NC_000019.8:g.7123447T>C	NCBI36
NG_008852.2:g.126565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1124-2A>G MANE Select	ENSP00000303830.4:n.1124-2A>G
ENST00000302850.9:c.1124-2A>G	ENSP00000303830.4:n.1124-2A>G
ENST00000341500.9:c.1124-2A>G	ENSP00000342838.4:n.1124-2A>G
ENST00000598216.1:n.1099-2A>G
NM_000208.2:c.1124-2A>G	NP_000199.2:n.1124-2A>G
NM_000208.3:c.1124-2A>G	NP_000199.2:n.1124-2A>G
NM_001079817.1:c.1124-2A>G	NP_001073285.1:n.1124-2A>G
NM_001079817.2:c.1124-2A>G	NP_001073285.1:n.1124-2A>G
XM_011527988.1:c.1202-2A>G	XP_011526290.1:n.1202-2A>G
XM_011527989.1:c.1202-2A>G	XP_011526291.1:n.1202-2A>G
XM_011527988.2:c.1124-2A>G	XP_011526290.2:n.1124-2A>G
XM_011527989.3:c.1124-2A>G	XP_011526291.2:n.1124-2A>G
NM_000208.4:c.1124-2A>G MANE Select	NP_000199.2:n.1124-2A>G
NM_001079817.3:c.1124-2A>G	NP_001073285.1:n.1124-2A>G