Canonical Allele Identifier: CA993122615

Gene: INSR

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7211981_7211982insCCACTGTTACCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGTGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCA , CM000681.2:g.7211981_7211982insCCACTGTTACCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGTGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCA	GRCh38
NC_000019.9:g.7211992_7211993insCCACTGTTACCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGTGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCA , CM000681.1:g.7211992_7211993insCCACTGTTACCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGTGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCA	GRCh37
NC_000019.8:g.7162992_7162993insCCACTGTTACCTTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGTGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCA	NCBI36
NG_008852.2:g.87065_87066insAGCCCCACCCCAGATGAAGATCCGACACTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTAAGGTAACAGTGGTGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC

Transcript Alleles

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