Canonical Allele Identifier: CA403668648

Gene: INSR

Linked Data

• gnomAD v4: 19-7117264-C-A
• MyVariant Identifiers: chr19:g.7117275C>A (hg19) ; chr19:g.7117264C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117264C>A , CM000681.2:g.7117264C>A	GRCh38
NC_000019.9:g.7117275C>A , CM000681.1:g.7117275C>A	GRCh37
NC_000019.8:g.7068275C>A	NCBI36
NG_008852.2:g.181737G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.3941G>T MANE Select	ENSP00000303830.4:p.Ser1314Ile
ENST00000302850.9:c.3941G>T	ENSP00000303830.4:p.Ser1314Ile
ENST00000341500.9:c.3905G>T	ENSP00000342838.4:p.Ser1302Ile
NM_000208.2:c.3941G>T	NP_000199.2:p.Ser1314Ile
NM_000208.3:c.3941G>T	NP_000199.2:p.Ser1314Ile
NM_001079817.1:c.3905G>T	NP_001073285.1:p.Ser1302Ile
NM_001079817.2:c.3905G>T	NP_001073285.1:p.Ser1302Ile
XM_011527988.1:c.4016G>T	XP_011526290.1:p.Ser1339Ile
XM_011527989.1:c.3980G>T	XP_011526291.1:p.Ser1327Ile
XM_011527988.2:c.3938G>T	XP_011526290.2:p.Ser1313Ile
XM_011527989.3:c.3902G>T	XP_011526291.2:p.Ser1301Ile
NM_000208.4:c.3941G>T MANE Select	NP_000199.2:p.Ser1314Ile
NM_001079817.3:c.3905G>T	NP_001073285.1:p.Ser1302Ile