Canonical Allele Identifier: CA9135468
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 330451
ClinVar RCV Id: RCV000288002 RCV000347368 RCV000393488 RCV000952778 RCV003884482
dbSNP Id: rs2229433
ExAC: 19:7132293 A / G
gnomAD v2: 19-7132293-A-G
gnomAD v3: 19-7132282-A-G
gnomAD v4: 19-7132282-A-G
MyVariant Identifiers: chr19:g.7132293A>G (hg19) chr19:g.7132282A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7132282A>G , CM000681.2:g.7132282A>G GRCh38
NC_000019.9:g.7132293A>G , CM000681.1:g.7132293A>G GRCh37
NC_000019.8:g.7083293A>G NCBI36
NG_008852.2:g.166719T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000302850.10:c.2718T>C MANE Select ENSP00000303830.4:p.Ala906=
ENST00000302850.9:c.2718T>C ENSP00000303830.4:p.Ala906=
ENST00000341500.9:c.2682T>C ENSP00000342838.4:p.Ala894=
NM_000208.2:c.2718T>C NP_000199.2:p.Ala906=
NM_000208.3:c.2718T>C NP_000199.2:p.Ala906=
NM_001079817.1:c.2682T>C NP_001073285.1:p.Ala894=
NM_001079817.2:c.2682T>C NP_001073285.1:p.Ala894=
XM_011527988.1:c.2796T>C XP_011526290.1:p.Ala932=
XM_011527989.1:c.2760T>C XP_011526291.1:p.Ala920=
XM_011527988.2:c.2718T>C XP_011526290.2:p.Ala906=
XM_011527989.3:c.2682T>C XP_011526291.2:p.Ala894=
NM_000208.4:c.2718T>C MANE Select NP_000199.2:p.Ala906=
NM_001079817.3:c.2682T>C NP_001073285.1:p.Ala894=
Search 100 bp 5'
Search 100 bp 3'