Canonical Allele Identifier: CA403669369

Gene: INSR

Linked Data

• gnomAD v4: 19-7120645-C-T
• MyVariant Identifiers: chr19:g.7120656C>T (hg19) ; chr19:g.7120645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7120645C>T , CM000681.2:g.7120645C>T	GRCh38
NC_000019.9:g.7120656C>T , CM000681.1:g.7120656C>T	GRCh37
NC_000019.8:g.7071656C>T	NCBI36
NG_008852.2:g.178356G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.3634G>A MANE Select	ENSP00000303830.4:p.Val1212Ile
ENST00000302850.9:c.3634G>A	ENSP00000303830.4:p.Val1212Ile
ENST00000341500.9:c.3598G>A	ENSP00000342838.4:p.Val1200Ile
ENST00000601099.1:n.545G>A
NM_000208.2:c.3634G>A	NP_000199.2:p.Val1212Ile
NM_000208.3:c.3634G>A	NP_000199.2:p.Val1212Ile
NM_001079817.1:c.3598G>A	NP_001073285.1:p.Val1200Ile
NM_001079817.2:c.3598G>A	NP_001073285.1:p.Val1200Ile
XM_011527988.1:c.3709G>A	XP_011526290.1:p.Val1237Ile
XM_011527989.1:c.3673G>A	XP_011526291.1:p.Val1225Ile
XM_011527988.2:c.3631G>A	XP_011526290.2:p.Val1211Ile
XM_011527989.3:c.3595G>A	XP_011526291.2:p.Val1199Ile
NM_000208.4:c.3634G>A MANE Select	NP_000199.2:p.Val1212Ile
NM_001079817.3:c.3598G>A	NP_001073285.1:p.Val1200Ile