Canonical Allele Identifier: CA9135099

Gene: INSR

Linked Data

• dbSNP Id: rs74495977
• ExAC: 19:7117159 G / A
• gnomAD v2: 19-7117159-G-A
• gnomAD v4: 19-7117148-G-A
• MyVariant Identifiers: chr19:g.7117159G>A (hg19) ; chr19:g.7117148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117148G>A , CM000681.2:g.7117148G>A	GRCh38
NC_000019.9:g.7117159G>A , CM000681.1:g.7117159G>A	GRCh37
NC_000019.8:g.7068159G>A	NCBI36
NG_008852.2:g.181853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4057C>T MANE Select	ENSP00000303830.4:p.Arg1353Trp
ENST00000302850.9:c.4057C>T	ENSP00000303830.4:p.Arg1353Trp
ENST00000341500.9:c.4021C>T	ENSP00000342838.4:p.Arg1341Trp
NM_000208.2:c.4057C>T	NP_000199.2:p.Arg1353Trp
NM_000208.3:c.4057C>T	NP_000199.2:p.Arg1353Trp
NM_001079817.1:c.4021C>T	NP_001073285.1:p.Arg1341Trp
NM_001079817.2:c.4021C>T	NP_001073285.1:p.Arg1341Trp
XM_011527988.1:c.4132C>T	XP_011526290.1:p.Arg1378Trp
XM_011527989.1:c.4096C>T	XP_011526291.1:p.Arg1366Trp
XM_011527988.2:c.4054C>T	XP_011526290.2:p.Arg1352Trp
XM_011527989.3:c.4018C>T	XP_011526291.2:p.Arg1340Trp
NM_000208.4:c.4057C>T MANE Select	NP_000199.2:p.Arg1353Trp
NM_001079817.3:c.4021C>T	NP_001073285.1:p.Arg1341Trp