Canonical Allele Identifier: CA9135670

Gene: INSR

Linked Data

• ClinVar Variation Id: 2884081
• ClinVar RCV Id: RCV003724240
• dbSNP Id: rs55906835
• ExAC: 19:7152884 T / C
• gnomAD v2: 19-7152884-T-C
• gnomAD v3: 19-7152873-T-C
• gnomAD v4: 19-7152873-T-C
• MyVariant Identifiers: chr19:g.7152884T>C (hg19) ; chr19:g.7152873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7152873T>C , CM000681.2:g.7152873T>C	GRCh38
NC_000019.9:g.7152884T>C , CM000681.1:g.7152884T>C	GRCh37
NC_000019.8:g.7103884T>C	NCBI36
NG_008852.2:g.146128A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.2084A>G MANE Select	ENSP00000303830.4:p.Gln695Arg
ENST00000302850.9:c.2084A>G	ENSP00000303830.4:p.Gln695Arg
ENST00000341500.9:c.2084A>G	ENSP00000342838.4:p.Gln695Arg
ENST00000598216.1:n.2059A>G
NM_000208.2:c.2084A>G	NP_000199.2:p.Gln695Arg
NM_000208.3:c.2084A>G	NP_000199.2:p.Gln695Arg
NM_001079817.1:c.2084A>G	NP_001073285.1:p.Gln695Arg
NM_001079817.2:c.2084A>G	NP_001073285.1:p.Gln695Arg
XM_011527988.1:c.2162A>G	XP_011526290.1:p.Gln721Arg
XM_011527989.1:c.2162A>G	XP_011526291.1:p.Gln721Arg
XM_011527988.2:c.2084A>G	XP_011526290.2:p.Gln695Arg
XM_011527989.3:c.2084A>G	XP_011526291.2:p.Gln695Arg
NM_000208.4:c.2084A>G MANE Select	NP_000199.2:p.Gln695Arg
NM_001079817.3:c.2084A>G	NP_001073285.1:p.Gln695Arg