Canonical Allele Identifier: CA10652868

Gene: INSR

Linked Data

• ClinVar Variation Id: 330449
• ClinVar RCV Id: RCV000276461 ; RCV000317517 ; RCV000372115
• dbSNP Id: rs886054688
• gnomAD v2: 19-7128875-A-T
• gnomAD v4: 19-7128864-A-T
• MyVariant Identifiers: chr19:g.7128875A>T (hg19) ; chr19:g.7128864A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7128864A>T , CM000681.2:g.7128864A>T	GRCh38
NC_000019.9:g.7128875A>T , CM000681.1:g.7128875A>T	GRCh37
NC_000019.8:g.7079875A>T	NCBI36
NG_008852.2:g.170137T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.2933T>A MANE Select	ENSP00000303830.4:p.Phe978Tyr
ENST00000302850.9:c.2933T>A	ENSP00000303830.4:p.Phe978Tyr
ENST00000341500.9:c.2897T>A	ENSP00000342838.4:p.Phe966Tyr
NM_000208.2:c.2933T>A	NP_000199.2:p.Phe978Tyr
NM_000208.3:c.2933T>A	NP_000199.2:p.Phe978Tyr
NM_001079817.1:c.2897T>A	NP_001073285.1:p.Phe966Tyr
NM_001079817.2:c.2897T>A	NP_001073285.1:p.Phe966Tyr
XM_011527988.1:c.3008T>A	XP_011526290.1:p.Phe1003Tyr
XM_011527989.1:c.2972T>A	XP_011526291.1:p.Phe991Tyr
XM_011527988.2:c.2930T>A	XP_011526290.2:p.Phe977Tyr
XM_011527989.3:c.2894T>A	XP_011526291.2:p.Phe965Tyr
NM_000208.4:c.2933T>A MANE Select	NP_000199.2:p.Phe978Tyr
NM_001079817.3:c.2897T>A	NP_001073285.1:p.Phe966Tyr