Canonical Allele Identifier: CA993122701

Gene: INSR

Linked Data

• dbSNP Id: rs1975290221
• gnomAD v3: 19-7211991-T-TTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTAA
• gnomAD v4: 19-7211991-T-TTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7211991_7211992insTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTAA , CM000681.2:g.7211991_7211992insTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTAA	GRCh38
NC_000019.9:g.7212002_7212003insTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTAA , CM000681.1:g.7212002_7212003insTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTAA	GRCh37
NC_000019.8:g.7163002_7163003insTAAAGTAGGGTTTCTCAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTAA	NCBI36
NG_008852.2:g.87009_87010insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA MANE Select	ENSP00000303830.4:n.653-27355_653-27354insTTAACAGTGATGGGGGAAT...
ENST00000302850.9:c.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA	ENSP00000303830.4:n.653-27355_653-27354insTTAACAGTGATGGGGGAAT...
ENST00000341500.9:c.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA	ENSP00000342838.4:n.653-27355_653-27354insTTAACAGTGATGGGGGAAT...
ENST00000598216.1:n.628-27355_628-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA
NM_000208.2:c.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA	NP_000199.2:n.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCA...
NM_000208.3:c.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA	NP_000199.2:n.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCA...
NM_001079817.1:c.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA	NP_001073285.1:n.653-27355_653-27354insTTAACAGTGATGGGGGAATTAT...
NM_001079817.2:c.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA	NP_001073285.1:n.653-27355_653-27354insTTAACAGTGATGGGGGAATTAT...
XM_011527988.1:c.731-27355_731-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA	XP_011526290.1:n.731-27355_731-27354insTTAACAGTGATGGGGGAATTAT...
XM_011527989.1:c.731-27355_731-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA	XP_011526291.1:n.731-27355_731-27354insTTAACAGTGATGGGGGAATTAT...
XM_011527988.2:c.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA	XP_011526290.2:n.653-27355_653-27354insTTAACAGTGATGGGGGAATTAT...
XM_011527989.3:c.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA	XP_011526291.2:n.653-27355_653-27354insTTAACAGTGATGGGGGAATTAT...
NM_000208.4:c.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA MANE Select	NP_000199.2:n.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCA...
NM_001079817.3:c.653-27355_653-27354insTTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAACAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTGAGAAACCCTACTTTA	NP_001073285.1:n.653-27355_653-27354insTTAACAGTGATGGGGGAATTAT...