Canonical Allele Identifier: CA9135128

Gene: INSR

Linked Data

• ClinVar Variation Id: 593002
• ClinVar RCV Id: RCV000727925
• dbSNP Id: rs756542405
• ExAC: 19:7117353 T / C
• gnomAD v2: 19-7117353-T-C
• gnomAD v3: 19-7117342-T-C
• gnomAD v4: 19-7117342-T-C
• MyVariant Identifiers: chr19:g.7117353T>C (hg19) ; chr19:g.7117342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117342T>C , CM000681.2:g.7117342T>C	GRCh38
NC_000019.9:g.7117353T>C , CM000681.1:g.7117353T>C	GRCh37
NC_000019.8:g.7068353T>C	NCBI36
NG_008852.2:g.181659A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3863A>G MANE Select	ENSP00000303830.4:p.Asn1288Ser
ENST00000302850.9:c.3863A>G	ENSP00000303830.4:p.Asn1288Ser
ENST00000341500.9:c.3827A>G	ENSP00000342838.4:p.Asn1276Ser
NM_000208.2:c.3863A>G	NP_000199.2:p.Asn1288Ser
NM_000208.3:c.3863A>G	NP_000199.2:p.Asn1288Ser
NM_001079817.1:c.3827A>G	NP_001073285.1:p.Asn1276Ser
NM_001079817.2:c.3827A>G	NP_001073285.1:p.Asn1276Ser
XM_011527988.1:c.3938A>G	XP_011526290.1:p.Asn1313Ser
XM_011527989.1:c.3902A>G	XP_011526291.1:p.Asn1301Ser
XM_011527988.2:c.3860A>G	XP_011526290.2:p.Asn1287Ser
XM_011527989.3:c.3824A>G	XP_011526291.2:p.Asn1275Ser
NM_000208.4:c.3863A>G MANE Select	NP_000199.2:p.Asn1288Ser
NM_001079817.3:c.3827A>G	NP_001073285.1:p.Asn1276Ser