Canonical Allele Identifier: CA403668659

Gene: INSR

Linked Data

• gnomAD v4: 19-7117268-C-G
• MyVariant Identifiers: chr19:g.7117279C>G (hg19) ; chr19:g.7117268C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117268C>G , CM000681.2:g.7117268C>G	GRCh38
NC_000019.9:g.7117279C>G , CM000681.1:g.7117279C>G	GRCh37
NC_000019.8:g.7068279C>G	NCBI36
NG_008852.2:g.181733G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3937G>C MANE Select	ENSP00000303830.4:p.Glu1313Gln
ENST00000302850.9:c.3937G>C	ENSP00000303830.4:p.Glu1313Gln
ENST00000341500.9:c.3901G>C	ENSP00000342838.4:p.Glu1301Gln
NM_000208.2:c.3937G>C	NP_000199.2:p.Glu1313Gln
NM_000208.3:c.3937G>C	NP_000199.2:p.Glu1313Gln
NM_001079817.1:c.3901G>C	NP_001073285.1:p.Glu1301Gln
NM_001079817.2:c.3901G>C	NP_001073285.1:p.Glu1301Gln
XM_011527988.1:c.4012G>C	XP_011526290.1:p.Glu1338Gln
XM_011527989.1:c.3976G>C	XP_011526291.1:p.Glu1326Gln
XM_011527988.2:c.3934G>C	XP_011526290.2:p.Glu1312Gln
XM_011527989.3:c.3898G>C	XP_011526291.2:p.Glu1300Gln
NM_000208.4:c.3937G>C MANE Select	NP_000199.2:p.Glu1313Gln
NM_001079817.3:c.3901G>C	NP_001073285.1:p.Glu1301Gln