Canonical Allele Identifier: CA9135084

Gene: INSR

Linked Data

• ClinVar Variation Id: 1685300
• ClinVar RCV Id: RCV002249027 ; RCV003094009
• dbSNP Id: rs52826008
• ExAC: 19:7117083 C / T
• gnomAD v2: 19-7117083-C-T
• gnomAD v3: 19-7117072-C-T
• gnomAD v4: 19-7117072-C-T
• COSMIC: COSM94505 ; COSM4581566
• MyVariant Identifiers: chr19:g.7117083C>T (hg19) ; chr19:g.7117072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7117072C>T , CM000681.2:g.7117072C>T	GRCh38
NC_000019.9:g.7117083C>T , CM000681.1:g.7117083C>T	GRCh37
NC_000019.8:g.7068083C>T	NCBI36
NG_008852.2:g.181929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.4133G>A MANE Select	ENSP00000303830.4:p.Arg1378Gln
ENST00000302850.9:c.4133G>A	ENSP00000303830.4:p.Arg1378Gln
ENST00000341500.9:c.4097G>A	ENSP00000342838.4:p.Arg1366Gln
NM_000208.2:c.4133G>A	NP_000199.2:p.Arg1378Gln
NM_000208.3:c.4133G>A	NP_000199.2:p.Arg1378Gln
NM_001079817.1:c.4097G>A	NP_001073285.1:p.Arg1366Gln
NM_001079817.2:c.4097G>A	NP_001073285.1:p.Arg1366Gln
XM_011527988.1:c.4208G>A	XP_011526290.1:p.Arg1403Gln
XM_011527989.1:c.4172G>A	XP_011526291.1:p.Arg1391Gln
XM_011527988.2:c.4130G>A	XP_011526290.2:p.Arg1377Gln
XM_011527989.3:c.4094G>A	XP_011526291.2:p.Arg1365Gln
NM_000208.4:c.4133G>A MANE Select	NP_000199.2:p.Arg1378Gln
NM_001079817.3:c.4097G>A	NP_001073285.1:p.Arg1366Gln