Canonical Allele Identifier: CA10652295

Gene: INSR

Linked Data

• ClinVar Variation Id: 330394
• ClinVar RCV Id: RCV000289911 ; RCV000345006 ; RCV000405681
• dbSNP Id: rs57473640
• gnomAD v2: 19-7114920-G-GTT
• gnomAD v3: 19-7114909-G-GTT
• gnomAD v4: 19-7114909-G-GTT
• MyVariant Identifiers: chr19:g.7114921_7114922dupTT (hg19) ; chr19:g.7114921_7114922insTT (hg19) ; chr19:g.7114920_7114921insTT (hg19) ; chr19:g.7114910_7114911dupTT (hg38) ; chr19:g.7114910_7114911insTT (hg38) ; chr19:g.7114909_7114910insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7114918_7114919dup , CM000681.2:g.7114918_7114919dup	GRCh38
NC_000019.9:g.7114929_7114930dup , CM000681.1:g.7114929_7114930dup	GRCh37
NC_000019.8:g.7065929_7065930dup	NCBI36
NG_008852.2:g.184090_184091dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302850.10:c.*2145_*2146dup MANE Select	ENSP00000303830.4:n.*2145_*2146dup
ENST00000341500.9:c.*2145_*2146dup	ENSP00000342838.4:n.*2145_*2146dup
NM_000208.2:c.*2145_*2146dup	NP_000199.2:n.*2145_*2146dup
NM_000208.3:c.*2145_*2146dup	NP_000199.2:n.*2145_*2146dup
NM_001079817.1:c.*2145_*2146dup	NP_001073285.1:n.*2145_*2146dup
NM_001079817.2:c.*2145_*2146dup	NP_001073285.1:n.*2145_*2146dup
XM_011527988.1:c.*2145_*2146dup	XP_011526290.1:n.*2145_*2146dup
XM_011527989.1:c.*2145_*2146dup	XP_011526291.1:n.*2145_*2146dup
XM_011527988.2:c.*2145_*2146dup	XP_011526290.2:n.*2145_*2146dup
XM_011527989.3:c.*2145_*2146dup	XP_011526291.2:n.*2145_*2146dup
NM_000208.4:c.*2145_*2146dup MANE Select	NP_000199.2:n.*2145_*2146dup
NM_001079817.3:c.*2145_*2146dup	NP_001073285.1:n.*2145_*2146dup