Canonical Allele Identifier: CA124269

Gene: INSR

Linked Data

• ClinVar Variation Id: 14710
• ClinVar RCV Id: RCV000015825
• dbSNP Id: rs121913158
• MyVariant Identifiers: chr19:g.7170715C>G (hg19) ; chr19:g.7170704C>G (hg38)
• PubMed: PMID:8188715 ; PMID:27896077

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7170704C>G , CM000681.2:g.7170704C>G	GRCh38
NC_000019.9:g.7170715C>G , CM000681.1:g.7170715C>G	GRCh37
NC_000019.8:g.7121715C>G	NCBI36
NG_008852.2:g.128297G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.1316G>C MANE Select	ENSP00000303830.4:p.Trp439Ser
ENST00000302850.9:c.1316G>C	ENSP00000303830.4:p.Trp439Ser
ENST00000341500.9:c.1316G>C	ENSP00000342838.4:p.Trp439Ser
ENST00000598216.1:n.1291G>C
NM_000208.2:c.1316G>C	NP_000199.2:p.Trp439Ser
NM_000208.3:c.1316G>C	NP_000199.2:p.Trp439Ser
NM_001079817.1:c.1316G>C	NP_001073285.1:p.Trp439Ser
NM_001079817.2:c.1316G>C	NP_001073285.1:p.Trp439Ser
XM_011527988.1:c.1394G>C	XP_011526290.1:p.Trp465Ser
XM_011527989.1:c.1394G>C	XP_011526291.1:p.Trp465Ser
XM_011527988.2:c.1316G>C	XP_011526290.2:p.Trp439Ser
XM_011527989.3:c.1316G>C	XP_011526291.2:p.Trp439Ser
NM_000208.4:c.1316G>C MANE Select	NP_000199.2:p.Trp439Ser
NM_001079817.3:c.1316G>C	NP_001073285.1:p.Trp439Ser