Canonical Allele Identifier: CA9135087

Gene: INSR

Linked Data

• dbSNP Id: rs745411496
• ExAC: 19:7117100 C / T
• gnomAD v2: 19-7117100-C-T
• gnomAD v3: 19-7117089-C-T
• gnomAD v4: 19-7117089-C-T
• MyVariant Identifiers: chr19:g.7117100C>T (hg19) ; chr19:g.7117089C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117089C>T , CM000681.2:g.7117089C>T	GRCh38
NC_000019.9:g.7117100C>T , CM000681.1:g.7117100C>T	GRCh37
NC_000019.8:g.7068100C>T	NCBI36
NG_008852.2:g.181912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4116G>A MANE Select	ENSP00000303830.4:p.Arg1372=
ENST00000302850.9:c.4116G>A	ENSP00000303830.4:p.Arg1372=
ENST00000341500.9:c.4080G>A	ENSP00000342838.4:p.Arg1360=
NM_000208.2:c.4116G>A	NP_000199.2:p.Arg1372=
NM_000208.3:c.4116G>A	NP_000199.2:p.Arg1372=
NM_001079817.1:c.4080G>A	NP_001073285.1:p.Arg1360=
NM_001079817.2:c.4080G>A	NP_001073285.1:p.Arg1360=
XM_011527988.1:c.4191G>A	XP_011526290.1:p.Arg1397=
XM_011527989.1:c.4155G>A	XP_011526291.1:p.Arg1385=
XM_011527988.2:c.4113G>A	XP_011526290.2:p.Arg1371=
XM_011527989.3:c.4077G>A	XP_011526291.2:p.Arg1359=
NM_000208.4:c.4116G>A MANE Select	NP_000199.2:p.Arg1372=
NM_001079817.3:c.4080G>A	NP_001073285.1:p.Arg1360=