Canonical Allele Identifier: CA993113844

Gene: INSR

Linked Data

• dbSNP Id: rs1972357658
• gnomAD v3: 19-7117247-C-CCA
• gnomAD v4: 19-7117247-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117248_7117249dup , CM000681.2:g.7117248_7117249dup	GRCh38
NC_000019.9:g.7117259_7117260dup , CM000681.1:g.7117259_7117260dup	GRCh37
NC_000019.8:g.7068259_7068260dup	NCBI36
NG_008852.2:g.181752_181753dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3956_3957dup MANE Select	ENSP00000303830.4:p.Glu1320TrpfsTer?
ENST00000302850.9:c.3956_3957dup	ENSP00000303830.4:p.Glu1320TrpfsTer?
ENST00000341500.9:c.3920_3921dup	ENSP00000342838.4:p.Glu1308TrpfsTer?
NM_000208.2:c.3956_3957dup	NP_000199.2:p.Glu1320TrpfsTer?
NM_000208.3:c.3956_3957dup	NP_000199.2:p.Glu1320TrpfsTer?
NM_001079817.1:c.3920_3921dup	NP_001073285.1:p.Glu1308TrpfsTer?
NM_001079817.2:c.3920_3921dup	NP_001073285.1:p.Glu1308TrpfsTer?
XM_011527988.1:c.4031_4032dup	XP_011526290.1:p.Glu1345TrpfsTer?
XM_011527989.1:c.3995_3996dup	XP_011526291.1:p.Glu1333TrpfsTer?
XM_011527988.2:c.3953_3954dup	XP_011526290.2:p.Glu1319TrpfsTer?
XM_011527989.3:c.3917_3918dup	XP_011526291.2:p.Glu1307TrpfsTer?
NM_000208.4:c.3956_3957dup MANE Select	NP_000199.2:p.Glu1320TrpfsTer?
NM_001079817.3:c.3920_3921dup	NP_001073285.1:p.Glu1308TrpfsTer?