Canonical Allele Identifier: CA993122612

Gene: INSR

Linked Data

• gnomAD v3: 19-7211935-C-CGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTACCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTCCGGTGGGGCT
• gnomAD v4: 19-7211935-C-CGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTACCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTCCGGTGGGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7211990_7211991insCCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTCCGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA , CM000681.2:g.7211990_7211991insCCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTCCGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA	GRCh38
NC_000019.9:g.7212001_7212002insCCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTCCGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA , CM000681.1:g.7212001_7212002insCCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTCCGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA	GRCh37
NC_000019.8:g.7163001_7163002insCCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTCCGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA	NCBI36
NG_008852.2:g.87065_87066insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC MANE Select	ENSP00000303830.4:n.653-27299_653-27298insAGCCCCACCGGAGATGAAG...
ENST00000302850.9:c.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC	ENSP00000303830.4:n.653-27299_653-27298insAGCCCCACCGGAGATGAAG...
ENST00000341500.9:c.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC	ENSP00000342838.4:n.653-27299_653-27298insAGCCCCACCGGAGATGAAG...
ENST00000598216.1:n.628-27299_628-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC
NM_000208.2:c.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC	NP_000199.2:n.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGA...
NM_000208.3:c.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC	NP_000199.2:n.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGA...
NM_001079817.1:c.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC	NP_001073285.1:n.653-27299_653-27298insAGCCCCACCGGAGATGAAGATC...
NM_001079817.2:c.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC	NP_001073285.1:n.653-27299_653-27298insAGCCCCACCGGAGATGAAGATC...
XM_011527988.1:c.731-27299_731-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC	XP_011526290.1:n.731-27299_731-27298insAGCCCCACCGGAGATGAAGATC...
XM_011527989.1:c.731-27299_731-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC	XP_011526291.1:n.731-27299_731-27298insAGCCCCACCGGAGATGAAGATC...
XM_011527988.2:c.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC	XP_011526290.2:n.653-27299_653-27298insAGCCCCACCGGAGATGAAGATC...
XM_011527989.3:c.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC	XP_011526291.2:n.653-27299_653-27298insAGCCCCACCGGAGATGAAGATC...
NM_000208.4:c.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC MANE Select	NP_000199.2:n.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGA...
NM_001079817.3:c.653-27299_653-27298insAGCCCCACCGGAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC	NP_001073285.1:n.653-27299_653-27298insAGCCCCACCGGAGATGAAGATC...