Canonical Allele Identifier: CA403671227

Gene: INSR

Linked Data

• MyVariant Identifiers: chr19:g.7125416T>A (hg19) ; chr19:g.7125405T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125405T>A , CM000681.2:g.7125405T>A	GRCh38
NC_000019.9:g.7125416T>A , CM000681.1:g.7125416T>A	GRCh37
NC_000019.8:g.7076416T>A	NCBI36
NG_008852.2:g.173596A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3136A>T MANE Select	ENSP00000303830.4:p.Ile1046Phe
ENST00000302850.9:c.3136A>T	ENSP00000303830.4:p.Ile1046Phe
ENST00000341500.9:c.3100A>T	ENSP00000342838.4:p.Ile1034Phe
NM_000208.2:c.3136A>T	NP_000199.2:p.Ile1046Phe
NM_000208.3:c.3136A>T	NP_000199.2:p.Ile1046Phe
NM_001079817.1:c.3100A>T	NP_001073285.1:p.Ile1034Phe
NM_001079817.2:c.3100A>T	NP_001073285.1:p.Ile1034Phe
XM_011527988.1:c.3211A>T	XP_011526290.1:p.Ile1071Phe
XM_011527989.1:c.3175A>T	XP_011526291.1:p.Ile1059Phe
XM_011527988.2:c.3133A>T	XP_011526290.2:p.Ile1045Phe
XM_011527989.3:c.3097A>T	XP_011526291.2:p.Ile1033Phe
NM_000208.4:c.3136A>T MANE Select	NP_000199.2:p.Ile1046Phe
NM_001079817.3:c.3100A>T	NP_001073285.1:p.Ile1034Phe