Canonical Allele Identifier: CA403668404

Gene: INSR

Linked Data

• gnomAD v4: 19-7117153-A-C
• MyVariant Identifiers: chr19:g.7117164A>C (hg19) ; chr19:g.7117153A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117153A>C , CM000681.2:g.7117153A>C	GRCh38
NC_000019.9:g.7117164A>C , CM000681.1:g.7117164A>C	GRCh37
NC_000019.8:g.7068164A>C	NCBI36
NG_008852.2:g.181848T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4052T>G MANE Select	ENSP00000303830.4:p.Phe1351Cys
ENST00000302850.9:c.4052T>G	ENSP00000303830.4:p.Phe1351Cys
ENST00000341500.9:c.4016T>G	ENSP00000342838.4:p.Phe1339Cys
NM_000208.2:c.4052T>G	NP_000199.2:p.Phe1351Cys
NM_000208.3:c.4052T>G	NP_000199.2:p.Phe1351Cys
NM_001079817.1:c.4016T>G	NP_001073285.1:p.Phe1339Cys
NM_001079817.2:c.4016T>G	NP_001073285.1:p.Phe1339Cys
XM_011527988.1:c.4127T>G	XP_011526290.1:p.Phe1376Cys
XM_011527989.1:c.4091T>G	XP_011526291.1:p.Phe1364Cys
XM_011527988.2:c.4049T>G	XP_011526290.2:p.Phe1350Cys
XM_011527989.3:c.4013T>G	XP_011526291.2:p.Phe1338Cys
NM_000208.4:c.4052T>G MANE Select	NP_000199.2:p.Phe1351Cys
NM_001079817.3:c.4016T>G	NP_001073285.1:p.Phe1339Cys