Canonical Allele Identifier: CA403668838

Gene: INSR

Linked Data

• gnomAD v4: 19-7117348-A-G
• MyVariant Identifiers: chr19:g.7117359A>G (hg19) ; chr19:g.7117348A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117348A>G , CM000681.2:g.7117348A>G	GRCh38
NC_000019.9:g.7117359A>G , CM000681.1:g.7117359A>G	GRCh37
NC_000019.8:g.7068359A>G	NCBI36
NG_008852.2:g.181653T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3857T>C MANE Select	ENSP00000303830.4:p.Ile1286Thr
ENST00000302850.9:c.3857T>C	ENSP00000303830.4:p.Ile1286Thr
ENST00000341500.9:c.3821T>C	ENSP00000342838.4:p.Ile1274Thr
NM_000208.2:c.3857T>C	NP_000199.2:p.Ile1286Thr
NM_000208.3:c.3857T>C	NP_000199.2:p.Ile1286Thr
NM_001079817.1:c.3821T>C	NP_001073285.1:p.Ile1274Thr
NM_001079817.2:c.3821T>C	NP_001073285.1:p.Ile1274Thr
XM_011527988.1:c.3932T>C	XP_011526290.1:p.Ile1311Thr
XM_011527989.1:c.3896T>C	XP_011526291.1:p.Ile1299Thr
XM_011527988.2:c.3854T>C	XP_011526290.2:p.Ile1285Thr
XM_011527989.3:c.3818T>C	XP_011526291.2:p.Ile1273Thr
NM_000208.4:c.3857T>C MANE Select	NP_000199.2:p.Ile1286Thr
NM_001079817.3:c.3821T>C	NP_001073285.1:p.Ile1274Thr