Canonical Allele Identifier: CA403668515

Gene: INSR

Linked Data

• dbSNP Id: rs1432736648
• gnomAD v2: 19-7117218-G-A
• gnomAD v4: 19-7117207-G-A
• COSMIC: COSM5391097 ; COSM5391098
• MyVariant Identifiers: chr19:g.7117218G>A (hg19) ; chr19:g.7117207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117207G>A , CM000681.2:g.7117207G>A	GRCh38
NC_000019.9:g.7117218G>A , CM000681.1:g.7117218G>A	GRCh37
NC_000019.8:g.7068218G>A	NCBI36
NG_008852.2:g.181794C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3998C>T MANE Select	ENSP00000303830.4:p.Ser1333Leu
ENST00000302850.9:c.3998C>T	ENSP00000303830.4:p.Ser1333Leu
ENST00000341500.9:c.3962C>T	ENSP00000342838.4:p.Ser1321Leu
NM_000208.2:c.3998C>T	NP_000199.2:p.Ser1333Leu
NM_000208.3:c.3998C>T	NP_000199.2:p.Ser1333Leu
NM_001079817.1:c.3962C>T	NP_001073285.1:p.Ser1321Leu
NM_001079817.2:c.3962C>T	NP_001073285.1:p.Ser1321Leu
XM_011527988.1:c.4073C>T	XP_011526290.1:p.Ser1358Leu
XM_011527989.1:c.4037C>T	XP_011526291.1:p.Ser1346Leu
XM_011527988.2:c.3995C>T	XP_011526290.2:p.Ser1332Leu
XM_011527989.3:c.3959C>T	XP_011526291.2:p.Ser1320Leu
NM_000208.4:c.3998C>T MANE Select	NP_000199.2:p.Ser1333Leu
NM_001079817.3:c.3962C>T	NP_001073285.1:p.Ser1321Leu