Canonical Allele Identifier: CA920049001

Gene: INSR

Linked Data

• dbSNP Id: rs1599863540
• gnomAD v4: 19-7117163-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117164_7117165dup , CM000681.2:g.7117164_7117165dup	GRCh38
NC_000019.9:g.7117175_7117176dup , CM000681.1:g.7117175_7117176dup	GRCh37
NC_000019.8:g.7068175_7068176dup	NCBI36
NG_008852.2:g.181836_181837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4040_4041dup MANE Select	ENSP00000303830.4:p.Ser1348ProfsTer18
ENST00000302850.9:c.4040_4041dup	ENSP00000303830.4:p.Ser1348ProfsTer18
ENST00000341500.9:c.4004_4005dup	ENSP00000342838.4:p.Ser1336ProfsTer18
NM_000208.2:c.4040_4041dup	NP_000199.2:p.Ser1348ProfsTer18
NM_000208.3:c.4040_4041dup	NP_000199.2:p.Ser1348ProfsTer18
NM_001079817.1:c.4004_4005dup	NP_001073285.1:p.Ser1336ProfsTer18
NM_001079817.2:c.4004_4005dup	NP_001073285.1:p.Ser1336ProfsTer18
XM_011527988.1:c.4115_4116dup	XP_011526290.1:p.Ser1373ProfsTer18
XM_011527989.1:c.4079_4080dup	XP_011526291.1:p.Ser1361ProfsTer18
XM_011527988.2:c.4037_4038dup	XP_011526290.2:p.Ser1347ProfsTer18
XM_011527989.3:c.4001_4002dup	XP_011526291.2:p.Ser1335ProfsTer18
NM_000208.4:c.4040_4041dup MANE Select	NP_000199.2:p.Ser1348ProfsTer18
NM_001079817.3:c.4004_4005dup	NP_001073285.1:p.Ser1336ProfsTer18