Canonical Allele Identifier: CA10649197

Gene: INSR

Linked Data

• ClinVar Variation Id: 330364
• ClinVar RCV Id: RCV000275699 ; RCV000329807 ; RCV000368007
• dbSNP Id: rs75499056
• gnomAD v2: 19-7113475-T-C
• gnomAD v3: 19-7113464-T-C
• gnomAD v4: 19-7113464-T-C
• MyVariant Identifiers: chr19:g.7113475T>C (hg19) ; chr19:g.7113464T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7113464T>C , CM000681.2:g.7113464T>C	GRCh38
NC_000019.9:g.7113475T>C , CM000681.1:g.7113475T>C	GRCh37
NC_000019.8:g.7064475T>C	NCBI36
NG_008852.2:g.185537A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.*3592A>G MANE Select	ENSP00000303830.4:n.*3592A>G
ENST00000341500.9:c.*3592A>G	ENSP00000342838.4:n.*3592A>G
NM_000208.2:c.*3592A>G	NP_000199.2:n.*3592A>G
NM_000208.3:c.*3592A>G	NP_000199.2:n.*3592A>G
NM_001079817.1:c.*3592A>G	NP_001073285.1:n.*3592A>G
NM_001079817.2:c.*3592A>G	NP_001073285.1:n.*3592A>G
XM_011527988.1:c.*3592A>G	XP_011526290.1:n.*3592A>G
XM_011527989.1:c.*3592A>G	XP_011526291.1:n.*3592A>G
XM_011527988.2:c.*3592A>G	XP_011526290.2:n.*3592A>G
XM_011527989.3:c.*3592A>G	XP_011526291.2:n.*3592A>G
NM_000208.4:c.*3592A>G MANE Select	NP_000199.2:n.*3592A>G
NM_001079817.3:c.*3592A>G	NP_001073285.1:n.*3592A>G