Canonical Allele Identifier: CA505217084

Gene: INSR

Linked Data

• ClinVar Variation Id: 2637767
• ClinVar RCV Id: RCV003405065
• dbSNP Id: rs1445698616
• gnomAD v3: 19-7122936-C-T
• gnomAD v4: 19-7122936-C-T
• MyVariant Identifiers: chr19:g.7122947C>T (hg19) ; chr19:g.7122936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7122936C>T , CM000681.2:g.7122936C>T	GRCh38
NC_000019.9:g.7122947C>T , CM000681.1:g.7122947C>T	GRCh37
NC_000019.8:g.7073947C>T	NCBI36
NG_008852.2:g.176065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3312G>A MANE Select	ENSP00000303830.4:p.Glu1104=
ENST00000302850.9:c.3312G>A	ENSP00000303830.4:p.Glu1104=
ENST00000341500.9:c.3276G>A	ENSP00000342838.4:p.Glu1092=
ENST00000593970.1:n.158G>A
ENST00000601099.1:n.223G>A
NM_000208.2:c.3312G>A	NP_000199.2:p.Glu1104=
NM_000208.3:c.3312G>A	NP_000199.2:p.Glu1104=
NM_001079817.1:c.3276G>A	NP_001073285.1:p.Glu1092=
NM_001079817.2:c.3276G>A	NP_001073285.1:p.Glu1092=
XM_011527988.1:c.3387G>A	XP_011526290.1:p.Glu1129=
XM_011527989.1:c.3351G>A	XP_011526291.1:p.Glu1117=
XM_011527988.2:c.3309G>A	XP_011526290.2:p.Glu1103=
XM_011527989.3:c.3273G>A	XP_011526291.2:p.Glu1091=
NM_000208.4:c.3312G>A MANE Select	NP_000199.2:p.Glu1104=
NM_001079817.3:c.3276G>A	NP_001073285.1:p.Glu1092=