Canonical Allele Identifier: CA403666437

Gene: INSR

Linked Data

• ClinVar Variation Id: 549553
• ClinVar RCV Id: RCV000664157
• dbSNP Id: rs1555743340
• gnomAD v4: 19-7166274-G-A
• MyVariant Identifiers: chr19:g.7166285G>A (hg19) ; chr19:g.7166274G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7166274G>A , CM000681.2:g.7166274G>A	GRCh38
NC_000019.9:g.7166285G>A , CM000681.1:g.7166285G>A	GRCh37
NC_000019.8:g.7117285G>A	NCBI36
NG_008852.2:g.132727C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.1741C>T MANE Select	ENSP00000303830.4:p.Arg581Trp
ENST00000302850.9:c.1741C>T	ENSP00000303830.4:p.Arg581Trp
ENST00000341500.9:c.1741C>T	ENSP00000342838.4:p.Arg581Trp
ENST00000598216.1:n.1716C>T
ENST00000600492.1:c.142C>T	ENSP00000473170.1:p.Arg48Trp
NM_000208.2:c.1741C>T	NP_000199.2:p.Arg581Trp
NM_000208.3:c.1741C>T	NP_000199.2:p.Arg581Trp
NM_001079817.1:c.1741C>T	NP_001073285.1:p.Arg581Trp
NM_001079817.2:c.1741C>T	NP_001073285.1:p.Arg581Trp
XM_011527988.1:c.1819C>T	XP_011526290.1:p.Arg607Trp
XM_011527989.1:c.1819C>T	XP_011526291.1:p.Arg607Trp
XM_011527988.2:c.1741C>T	XP_011526290.2:p.Arg581Trp
XM_011527989.3:c.1741C>T	XP_011526291.2:p.Arg581Trp
NM_000208.4:c.1741C>T MANE Select	NP_000199.2:p.Arg581Trp
NM_001079817.3:c.1741C>T	NP_001073285.1:p.Arg581Trp