Canonical Allele Identifier: CA505400181

Gene: INSR

Linked Data

• dbSNP Id: rs1464166146
• gnomAD v2: 19-7125327-G-A
• gnomAD v3: 19-7125316-G-A
• gnomAD v4: 19-7125316-G-A
• MyVariant Identifiers: chr19:g.7125327G>A (hg19) ; chr19:g.7125316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125316G>A , CM000681.2:g.7125316G>A	GRCh38
NC_000019.9:g.7125327G>A , CM000681.1:g.7125327G>A	GRCh37
NC_000019.8:g.7076327G>A	NCBI36
NG_008852.2:g.173685C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3225C>T MANE Select	ENSP00000303830.4:p.Ala1075=
ENST00000302850.9:c.3225C>T	ENSP00000303830.4:p.Ala1075=
ENST00000341500.9:c.3189C>T	ENSP00000342838.4:p.Ala1063=
ENST00000593970.1:n.71C>T
NM_000208.2:c.3225C>T	NP_000199.2:p.Ala1075=
NM_000208.3:c.3225C>T	NP_000199.2:p.Ala1075=
NM_001079817.1:c.3189C>T	NP_001073285.1:p.Ala1063=
NM_001079817.2:c.3189C>T	NP_001073285.1:p.Ala1063=
XM_011527988.1:c.3300C>T	XP_011526290.1:p.Ala1100=
XM_011527989.1:c.3264C>T	XP_011526291.1:p.Ala1088=
XM_011527988.2:c.3222C>T	XP_011526290.2:p.Ala1074=
XM_011527989.3:c.3186C>T	XP_011526291.2:p.Ala1062=
NM_000208.4:c.3225C>T MANE Select	NP_000199.2:p.Ala1075=
NM_001079817.3:c.3189C>T	NP_001073285.1:p.Ala1063=