Canonical Allele Identifier: CA403671483

Gene: INSR

Linked Data

• gnomAD v3: 19-7125524-A-T
• gnomAD v4: 19-7125524-A-T
• MyVariant Identifiers: chr19:g.7125535A>T (hg19) ; chr19:g.7125524A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7125524A>T , CM000681.2:g.7125524A>T	GRCh38
NC_000019.9:g.7125535A>T , CM000681.1:g.7125535A>T	GRCh37
NC_000019.8:g.7076535A>T	NCBI36
NG_008852.2:g.173477T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3017T>A MANE Select	ENSP00000303830.4:p.Phe1006Tyr
ENST00000302850.9:c.3017T>A	ENSP00000303830.4:p.Phe1006Tyr
ENST00000341500.9:c.2981T>A	ENSP00000342838.4:p.Phe994Tyr
NM_000208.2:c.3017T>A	NP_000199.2:p.Phe1006Tyr
NM_000208.3:c.3017T>A	NP_000199.2:p.Phe1006Tyr
NM_001079817.1:c.2981T>A	NP_001073285.1:p.Phe994Tyr
NM_001079817.2:c.2981T>A	NP_001073285.1:p.Phe994Tyr
XM_011527988.1:c.3092T>A	XP_011526290.1:p.Phe1031Tyr
XM_011527989.1:c.3056T>A	XP_011526291.1:p.Phe1019Tyr
XM_011527988.2:c.3014T>A	XP_011526290.2:p.Phe1005Tyr
XM_011527989.3:c.2978T>A	XP_011526291.2:p.Phe993Tyr
NM_000208.4:c.3017T>A MANE Select	NP_000199.2:p.Phe1006Tyr
NM_001079817.3:c.2981T>A	NP_001073285.1:p.Phe994Tyr