Canonical Allele Identifier: CA993122623

Gene: INSR

Linked Data

• dbSNP Id: rs1975288004
• gnomAD v3: 19-7211953-C-CTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTACCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGAA
• gnomAD v4: 19-7211953-C-CTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTACCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7211990_7211991insCCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGAATCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA , CM000681.2:g.7211990_7211991insCCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGAATCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA	GRCh38
NC_000019.9:g.7212001_7212002insCCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGAATCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA , CM000681.1:g.7212001_7212002insCCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGAATCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA	GRCh37
NC_000019.8:g.7163001_7163002insCCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGAATCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA	NCBI36
NG_008852.2:g.87047_87048insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA MANE Select	ENSP00000303830.4:n.653-27317_653-27316insTTCTGTGACTTGGGAAACA...
ENST00000302850.9:c.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA	ENSP00000303830.4:n.653-27317_653-27316insTTCTGTGACTTGGGAAACA...
ENST00000341500.9:c.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA	ENSP00000342838.4:n.653-27317_653-27316insTTCTGTGACTTGGGAAACA...
ENST00000598216.1:n.628-27317_628-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA
NM_000208.2:c.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA	NP_000199.2:n.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCA...
NM_000208.3:c.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA	NP_000199.2:n.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCA...
NM_001079817.1:c.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA	NP_001073285.1:n.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCC...
NM_001079817.2:c.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA	NP_001073285.1:n.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCC...
XM_011527988.1:c.731-27317_731-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA	XP_011526290.1:n.731-27317_731-27316insTTCTGTGACTTGGGAAACAGCC...
XM_011527989.1:c.731-27317_731-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA	XP_011526291.1:n.731-27317_731-27316insTTCTGTGACTTGGGAAACAGCC...
XM_011527988.2:c.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA	XP_011526290.2:n.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCC...
XM_011527989.3:c.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA	XP_011526291.2:n.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCC...
NM_000208.4:c.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA MANE Select	NP_000199.2:n.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCA...
NM_001079817.3:c.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGA	NP_001073285.1:n.653-27317_653-27316insTTCTGTGACTTGGGAAACAGCC...