Canonical Allele Identifier: CA9135776

Gene: INSR

Linked Data

• ClinVar Variation Id: 330470
• ClinVar RCV Id: RCV001706540
• dbSNP Id: rs2229429
• ExAC: 19:7166388 G / A
• gnomAD v2: 19-7166388-G-A
• gnomAD v3: 19-7166377-G-A
• gnomAD v4: 19-7166377-G-A
• MyVariant Identifiers: chr19:g.7166388G>A (hg19) ; chr19:g.7166377G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7166377G>A , CM000681.2:g.7166377G>A	GRCh38
NC_000019.9:g.7166388G>A , CM000681.1:g.7166388G>A	GRCh37
NC_000019.8:g.7117388G>A	NCBI36
NG_008852.2:g.132624C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302850.10:c.1638C>T MANE Select	ENSP00000303830.4:p.Asp546=
ENST00000302850.9:c.1638C>T	ENSP00000303830.4:p.Asp546=
ENST00000341500.9:c.1638C>T	ENSP00000342838.4:p.Asp546=
ENST00000598216.1:n.1613C>T
ENST00000600492.1:c.39C>T	ENSP00000473170.1:p.Asp13=
NM_000208.2:c.1638C>T	NP_000199.2:p.Asp546=
NM_000208.3:c.1638C>T	NP_000199.2:p.Asp546=
NM_001079817.1:c.1638C>T	NP_001073285.1:p.Asp546=
NM_001079817.2:c.1638C>T	NP_001073285.1:p.Asp546=
XM_011527988.1:c.1716C>T	XP_011526290.1:p.Asp572=
XM_011527989.1:c.1716C>T	XP_011526291.1:p.Asp572=
XM_011527988.2:c.1638C>T	XP_011526290.2:p.Asp546=
XM_011527989.3:c.1638C>T	XP_011526291.2:p.Asp546=
NM_000208.4:c.1638C>T MANE Select	NP_000199.2:p.Asp546=
NM_001079817.3:c.1638C>T	NP_001073285.1:p.Asp546=