Canonical Allele Identifier: CA403668194

Gene: INSR

Linked Data

• gnomAD v4: 19-7117056-T-G
• MyVariant Identifiers: chr19:g.7117067T>G (hg19) ; chr19:g.7117056T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117056T>G , CM000681.2:g.7117056T>G	GRCh38
NC_000019.9:g.7117067T>G , CM000681.1:g.7117067T>G	GRCh37
NC_000019.8:g.7068067T>G	NCBI36
NG_008852.2:g.181945A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4149A>C MANE Select	ENSP00000303830.4:p.Ter1383Tyr
ENST00000302850.9:c.4149A>C	ENSP00000303830.4:p.Ter1383Tyr
ENST00000341500.9:c.4113A>C	ENSP00000342838.4:p.Ter1371Tyr
NM_000208.2:c.4149A>C	NP_000199.2:p.Ter1383Tyr
NM_000208.3:c.4149A>C	NP_000199.2:p.Ter1383Tyr
NM_001079817.1:c.4113A>C	NP_001073285.1:p.Ter1371Tyr
NM_001079817.2:c.4113A>C	NP_001073285.1:p.Ter1371Tyr
XM_011527988.1:c.4224A>C	XP_011526290.1:p.Ter1408Tyr
XM_011527989.1:c.4188A>C	XP_011526291.1:p.Ter1396Tyr
XM_011527988.2:c.4146A>C	XP_011526290.2:p.Ter1382Tyr
XM_011527989.3:c.4110A>C	XP_011526291.2:p.Ter1370Tyr
NM_000208.4:c.4149A>C MANE Select	NP_000199.2:p.Ter1383Tyr
NM_001079817.3:c.4113A>C	NP_001073285.1:p.Ter1371Tyr