Canonical Allele Identifier: CA505400030

Gene: INSR

Linked Data

• ClinVar Variation Id: 1643540
• ClinVar RCV Id: RCV002138312
• dbSNP Id: rs551853926
• MyVariant Identifiers: chr19:g.7117172C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117161C>G , CM000681.2:g.7117161C>G	GRCh38
NC_000019.9:g.7117172C>G , CM000681.1:g.7117172C>G	GRCh37
NC_000019.8:g.7068172C>G	NCBI36
NG_008852.2:g.181840G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4044G>C MANE Select	ENSP00000303830.4:p.Ser1348=
ENST00000302850.9:c.4044G>C	ENSP00000303830.4:p.Ser1348=
ENST00000341500.9:c.4008G>C	ENSP00000342838.4:p.Ser1336=
NM_000208.2:c.4044G>C	NP_000199.2:p.Ser1348=
NM_000208.3:c.4044G>C	NP_000199.2:p.Ser1348=
NM_001079817.1:c.4008G>C	NP_001073285.1:p.Ser1336=
NM_001079817.2:c.4008G>C	NP_001073285.1:p.Ser1336=
XM_011527988.1:c.4119G>C	XP_011526290.1:p.Ser1373=
XM_011527989.1:c.4083G>C	XP_011526291.1:p.Ser1361=
XM_011527988.2:c.4041G>C	XP_011526290.2:p.Ser1347=
XM_011527989.3:c.4005G>C	XP_011526291.2:p.Ser1335=
NM_000208.4:c.4044G>C MANE Select	NP_000199.2:p.Ser1348=
NM_001079817.3:c.4008G>C	NP_001073285.1:p.Ser1336=