Canonical Allele Identifier: CA9135335

Gene: INSR

Linked Data

• ClinVar Variation Id: 2858657
• ClinVar RCV Id: RCV003699478 ; RCV004371864
• dbSNP Id: rs367827848
• ExAC: 19:7125349 C / T
• gnomAD v2: 19-7125349-C-T
• gnomAD v3: 19-7125338-C-T
• gnomAD v4: 19-7125338-C-T
• MyVariant Identifiers: chr19:g.7125349C>T (hg19) ; chr19:g.7125338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125338C>T , CM000681.2:g.7125338C>T	GRCh38
NC_000019.9:g.7125349C>T , CM000681.1:g.7125349C>T	GRCh37
NC_000019.8:g.7076349C>T	NCBI36
NG_008852.2:g.173663G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3203G>A MANE Select	ENSP00000303830.4:p.Arg1068Gln
ENST00000302850.9:c.3203G>A	ENSP00000303830.4:p.Arg1068Gln
ENST00000341500.9:c.3167G>A	ENSP00000342838.4:p.Arg1056Gln
ENST00000593970.1:n.49G>A
NM_000208.2:c.3203G>A	NP_000199.2:p.Arg1068Gln
NM_000208.3:c.3203G>A	NP_000199.2:p.Arg1068Gln
NM_001079817.1:c.3167G>A	NP_001073285.1:p.Arg1056Gln
NM_001079817.2:c.3167G>A	NP_001073285.1:p.Arg1056Gln
XM_011527988.1:c.3278G>A	XP_011526290.1:p.Arg1093Gln
XM_011527989.1:c.3242G>A	XP_011526291.1:p.Arg1081Gln
XM_011527988.2:c.3200G>A	XP_011526290.2:p.Arg1067Gln
XM_011527989.3:c.3164G>A	XP_011526291.2:p.Arg1055Gln
NM_000208.4:c.3203G>A MANE Select	NP_000199.2:p.Arg1068Gln
NM_001079817.3:c.3167G>A	NP_001073285.1:p.Arg1056Gln