Canonical Allele Identifier: CA9135556

Gene: INSR

Linked Data

• ClinVar Variation Id: 549552
• ClinVar RCV Id: RCV002060806 ; RCV002530623
• dbSNP Id: rs78433961
• ExAC: 19:7142981 C / G
• gnomAD v2: 19-7142981-C-G
• gnomAD v3: 19-7142970-C-G
• gnomAD v4: 19-7142970-C-G
• MyVariant Identifiers: chr19:g.7142981C>G (hg19) ; chr19:g.7142970C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7142970C>G , CM000681.2:g.7142970C>G	GRCh38
NC_000019.9:g.7142981C>G , CM000681.1:g.7142981C>G	GRCh37
NC_000019.8:g.7093981C>G	NCBI36
NG_008852.2:g.156031G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.2388G>C MANE Select	ENSP00000303830.4:p.Arg796Ser
ENST00000302850.9:c.2388G>C	ENSP00000303830.4:p.Arg796Ser
ENST00000341500.9:c.2352G>C	ENSP00000342838.4:p.Arg784Ser
ENST00000597211.1:n.71G>C
NM_000208.2:c.2388G>C	NP_000199.2:p.Arg796Ser
NM_000208.3:c.2388G>C	NP_000199.2:p.Arg796Ser
NM_001079817.1:c.2352G>C	NP_001073285.1:p.Arg784Ser
NM_001079817.2:c.2352G>C	NP_001073285.1:p.Arg784Ser
XM_011527988.1:c.2466G>C	XP_011526290.1:p.Arg822Ser
XM_011527989.1:c.2430G>C	XP_011526291.1:p.Arg810Ser
XM_011527988.2:c.2388G>C	XP_011526290.2:p.Arg796Ser
XM_011527989.3:c.2352G>C	XP_011526291.2:p.Arg784Ser
NM_000208.4:c.2388G>C MANE Select	NP_000199.2:p.Arg796Ser
NM_001079817.3:c.2352G>C	NP_001073285.1:p.Arg784Ser