Canonical Allele Identifier: CA403671375

Gene: INSR

Linked Data

• dbSNP Id: rs1419546448
• gnomAD v2: 19-7125485-T-C
• gnomAD v4: 19-7125474-T-C
• COSMIC: COSM713945 ; COSM713946
• MyVariant Identifiers: chr19:g.7125485T>C (hg19) ; chr19:g.7125474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125474T>C , CM000681.2:g.7125474T>C	GRCh38
NC_000019.9:g.7125485T>C , CM000681.1:g.7125485T>C	GRCh37
NC_000019.8:g.7076485T>C	NCBI36
NG_008852.2:g.173527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3067A>G MANE Select	ENSP00000303830.4:p.Ile1023Val
ENST00000302850.9:c.3067A>G	ENSP00000303830.4:p.Ile1023Val
ENST00000341500.9:c.3031A>G	ENSP00000342838.4:p.Ile1011Val
NM_000208.2:c.3067A>G	NP_000199.2:p.Ile1023Val
NM_000208.3:c.3067A>G	NP_000199.2:p.Ile1023Val
NM_001079817.1:c.3031A>G	NP_001073285.1:p.Ile1011Val
NM_001079817.2:c.3031A>G	NP_001073285.1:p.Ile1011Val
XM_011527988.1:c.3142A>G	XP_011526290.1:p.Ile1048Val
XM_011527989.1:c.3106A>G	XP_011526291.1:p.Ile1036Val
XM_011527988.2:c.3064A>G	XP_011526290.2:p.Ile1022Val
XM_011527989.3:c.3028A>G	XP_011526291.2:p.Ile1010Val
NM_000208.4:c.3067A>G MANE Select	NP_000199.2:p.Ile1023Val
NM_001079817.3:c.3031A>G	NP_001073285.1:p.Ile1011Val