Canonical Allele Identifier: CA403668826

Gene: INSR

Linked Data

• dbSNP Id: rs756542405
• gnomAD v4: 19-7117342-T-A
• MyVariant Identifiers: chr19:g.7117353T>A (hg19) ; chr19:g.7117342T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117342T>A , CM000681.2:g.7117342T>A	GRCh38
NC_000019.9:g.7117353T>A , CM000681.1:g.7117353T>A	GRCh37
NC_000019.8:g.7068353T>A	NCBI36
NG_008852.2:g.181659A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3863A>T MANE Select	ENSP00000303830.4:p.Asn1288Ile
ENST00000302850.9:c.3863A>T	ENSP00000303830.4:p.Asn1288Ile
ENST00000341500.9:c.3827A>T	ENSP00000342838.4:p.Asn1276Ile
NM_000208.2:c.3863A>T	NP_000199.2:p.Asn1288Ile
NM_000208.3:c.3863A>T	NP_000199.2:p.Asn1288Ile
NM_001079817.1:c.3827A>T	NP_001073285.1:p.Asn1276Ile
NM_001079817.2:c.3827A>T	NP_001073285.1:p.Asn1276Ile
XM_011527988.1:c.3938A>T	XP_011526290.1:p.Asn1313Ile
XM_011527989.1:c.3902A>T	XP_011526291.1:p.Asn1301Ile
XM_011527988.2:c.3860A>T	XP_011526290.2:p.Asn1287Ile
XM_011527989.3:c.3824A>T	XP_011526291.2:p.Asn1275Ile
NM_000208.4:c.3863A>T MANE Select	NP_000199.2:p.Asn1288Ile
NM_001079817.3:c.3827A>T	NP_001073285.1:p.Asn1276Ile