Canonical Allele Identifier: CA9135291

Gene: INSR

Linked Data

• dbSNP Id: rs369706721
• ExAC: 19:7122863 C / T
• gnomAD v2: 19-7122863-C-T
• gnomAD v3: 19-7122852-C-T
• gnomAD v4: 19-7122852-C-T
• MyVariant Identifiers: chr19:g.7122863C>T (hg19) ; chr19:g.7122852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7122852C>T , CM000681.2:g.7122852C>T	GRCh38
NC_000019.9:g.7122863C>T , CM000681.1:g.7122863C>T	GRCh37
NC_000019.8:g.7073863C>T	NCBI36
NG_008852.2:g.176149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3369+27G>A MANE Select	ENSP00000303830.4:n.3369+27G>A
ENST00000302850.9:c.3369+27G>A	ENSP00000303830.4:n.3369+27G>A
ENST00000341500.9:c.3333+27G>A	ENSP00000342838.4:n.3333+27G>A
ENST00000593970.1:n.215+27G>A
ENST00000601099.1:n.280+27G>A
NM_000208.2:c.3369+27G>A	NP_000199.2:n.3369+27G>A
NM_000208.3:c.3369+27G>A	NP_000199.2:n.3369+27G>A
NM_001079817.1:c.3333+27G>A	NP_001073285.1:n.3333+27G>A
NM_001079817.2:c.3333+27G>A	NP_001073285.1:n.3333+27G>A
XM_011527988.1:c.3444+27G>A	XP_011526290.1:n.3444+27G>A
XM_011527989.1:c.3408+27G>A	XP_011526291.1:n.3408+27G>A
XM_011527988.2:c.3366+27G>A	XP_011526290.2:n.3366+27G>A
XM_011527989.3:c.3330+27G>A	XP_011526291.2:n.3330+27G>A
NM_000208.4:c.3369+27G>A MANE Select	NP_000199.2:n.3369+27G>A
NM_001079817.3:c.3333+27G>A	NP_001073285.1:n.3333+27G>A