Canonical Allele Identifier: CA9135107

Gene: INSR

Linked Data

• ClinVar Variation Id: 734788
• ClinVar RCV Id: RCV000910245
• dbSNP Id: rs746489788
• ExAC: 19:7117217 C / A
• gnomAD v2: 19-7117217-C-A
• MyVariant Identifiers: chr19:g.7117217C>A (hg19) ; chr19:g.7117206C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117206C>A , CM000681.2:g.7117206C>A	GRCh38
NC_000019.9:g.7117217C>A , CM000681.1:g.7117217C>A	GRCh37
NC_000019.8:g.7068217C>A	NCBI36
NG_008852.2:g.181795G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3999G>T MANE Select	ENSP00000303830.4:p.Ser1333=
ENST00000302850.9:c.3999G>T	ENSP00000303830.4:p.Ser1333=
ENST00000341500.9:c.3963G>T	ENSP00000342838.4:p.Ser1321=
NM_000208.2:c.3999G>T	NP_000199.2:p.Ser1333=
NM_000208.3:c.3999G>T	NP_000199.2:p.Ser1333=
NM_001079817.1:c.3963G>T	NP_001073285.1:p.Ser1321=
NM_001079817.2:c.3963G>T	NP_001073285.1:p.Ser1321=
XM_011527988.1:c.4074G>T	XP_011526290.1:p.Ser1358=
XM_011527989.1:c.4038G>T	XP_011526291.1:p.Ser1346=
XM_011527988.2:c.3996G>T	XP_011526290.2:p.Ser1332=
XM_011527989.3:c.3960G>T	XP_011526291.2:p.Ser1320=
NM_000208.4:c.3999G>T MANE Select	NP_000199.2:p.Ser1333=
NM_001079817.3:c.3963G>T	NP_001073285.1:p.Ser1321=