Canonical Allele Identifier: CA9135883

Gene: INSR

Linked Data

• ClinVar Variation Id: 3019648
• ClinVar RCV Id: RCV003874759
• dbSNP Id: rs745742438
• ExAC: 19:7172324 A / T
• gnomAD v2: 19-7172324-A-T
• gnomAD v4: 19-7172313-A-T
• MyVariant Identifiers: chr19:g.7172324A>T (hg19) ; chr19:g.7172313A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7172313A>T , CM000681.2:g.7172313A>T	GRCh38
NC_000019.9:g.7172324A>T , CM000681.1:g.7172324A>T	GRCh37
NC_000019.8:g.7123324A>T	NCBI36
NG_008852.2:g.126688T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1245T>A MANE Select	ENSP00000303830.4:p.Ile415=
ENST00000302850.9:c.1245T>A	ENSP00000303830.4:p.Ile415=
ENST00000341500.9:c.1245T>A	ENSP00000342838.4:p.Ile415=
ENST00000598216.1:n.1220T>A
NM_000208.2:c.1245T>A	NP_000199.2:p.Ile415=
NM_000208.3:c.1245T>A	NP_000199.2:p.Ile415=
NM_001079817.1:c.1245T>A	NP_001073285.1:p.Ile415=
NM_001079817.2:c.1245T>A	NP_001073285.1:p.Ile415=
XM_011527988.1:c.1323T>A	XP_011526290.1:p.Ile441=
XM_011527989.1:c.1323T>A	XP_011526291.1:p.Ile441=
XM_011527988.2:c.1245T>A	XP_011526290.2:p.Ile415=
XM_011527989.3:c.1245T>A	XP_011526291.2:p.Ile415=
NM_000208.4:c.1245T>A MANE Select	NP_000199.2:p.Ile415=
NM_001079817.3:c.1245T>A	NP_001073285.1:p.Ile415=