Canonical Allele Identifier: CA9135126

Gene: INSR

Linked Data

• ClinVar Variation Id: 759511
• ClinVar RCV Id: RCV000937345
• dbSNP Id: rs781656016
• ExAC: 19:7117340 G / A
• gnomAD v2: 19-7117340-G-A
• gnomAD v3: 19-7117329-G-A
• gnomAD v4: 19-7117329-G-A
• MyVariant Identifiers: chr19:g.7117340G>A (hg19) ; chr19:g.7117329G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117329G>A , CM000681.2:g.7117329G>A	GRCh38
NC_000019.9:g.7117340G>A , CM000681.1:g.7117340G>A	GRCh37
NC_000019.8:g.7068340G>A	NCBI36
NG_008852.2:g.181672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3876C>T MANE Select	ENSP00000303830.4:p.Asp1292=
ENST00000302850.9:c.3876C>T	ENSP00000303830.4:p.Asp1292=
ENST00000341500.9:c.3840C>T	ENSP00000342838.4:p.Asp1280=
NM_000208.2:c.3876C>T	NP_000199.2:p.Asp1292=
NM_000208.3:c.3876C>T	NP_000199.2:p.Asp1292=
NM_001079817.1:c.3840C>T	NP_001073285.1:p.Asp1280=
NM_001079817.2:c.3840C>T	NP_001073285.1:p.Asp1280=
XM_011527988.1:c.3951C>T	XP_011526290.1:p.Asp1317=
XM_011527989.1:c.3915C>T	XP_011526291.1:p.Asp1305=
XM_011527988.2:c.3873C>T	XP_011526290.2:p.Asp1291=
XM_011527989.3:c.3837C>T	XP_011526291.2:p.Asp1279=
NM_000208.4:c.3876C>T MANE Select	NP_000199.2:p.Asp1292=
NM_001079817.3:c.3840C>T	NP_001073285.1:p.Asp1280=