Canonical Allele Identifier: CA304866613

Gene: INSR

Linked Data

• dbSNP Id: rs113527718
• gnomAD v2: 19-7117327-T-C
• gnomAD v3: 19-7117316-T-C
• gnomAD v4: 19-7117316-T-C
• MyVariant Identifiers: chr19:g.7117327T>C (hg19) ; chr19:g.7117316T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117316T>C , CM000681.2:g.7117316T>C	GRCh38
NC_000019.9:g.7117327T>C , CM000681.1:g.7117327T>C	GRCh37
NC_000019.8:g.7068327T>C	NCBI36
NG_008852.2:g.181685A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3889A>G MANE Select	ENSP00000303830.4:p.Ser1297Gly
ENST00000302850.9:c.3889A>G	ENSP00000303830.4:p.Ser1297Gly
ENST00000341500.9:c.3853A>G	ENSP00000342838.4:p.Ser1285Gly
NM_000208.2:c.3889A>G	NP_000199.2:p.Ser1297Gly
NM_000208.3:c.3889A>G	NP_000199.2:p.Ser1297Gly
NM_001079817.1:c.3853A>G	NP_001073285.1:p.Ser1285Gly
NM_001079817.2:c.3853A>G	NP_001073285.1:p.Ser1285Gly
XM_011527988.1:c.3964A>G	XP_011526290.1:p.Ser1322Gly
XM_011527989.1:c.3928A>G	XP_011526291.1:p.Ser1310Gly
XM_011527988.2:c.3886A>G	XP_011526290.2:p.Ser1296Gly
XM_011527989.3:c.3850A>G	XP_011526291.2:p.Ser1284Gly
NM_000208.4:c.3889A>G MANE Select	NP_000199.2:p.Ser1297Gly
NM_001079817.3:c.3853A>G	NP_001073285.1:p.Ser1285Gly