Canonical Allele Identifier: CA10643372
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 330367
ClinVar RCV Id: RCV000287254 RCV000341217 RCV000390819
dbSNP Id: rs886054663
gnomAD v2: 19-7113662-TTTG-T
gnomAD v3: 19-7113651-TTTG-T
gnomAD v4: 19-7113651-TTTG-T
MyVariant Identifiers: chr19:g.7113663_7113665del (hg19) chr19:g.7113652_7113654del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7113664_7113666del , CM000681.2:g.7113664_7113666del GRCh38
NC_000019.9:g.7113675_7113677del , CM000681.1:g.7113675_7113677del GRCh37
NC_000019.8:g.7064675_7064677del NCBI36
NG_008852.2:g.185347_185349del

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.*3402_*3404del MANE Select ENSP00000303830.4:n.*3402_*3404del
ENST00000341500.9:c.*3402_*3404del ENSP00000342838.4:n.*3402_*3404del
NM_000208.2:c.*3402_*3404del NP_000199.2:n.*3402_*3404del
NM_000208.3:c.*3402_*3404del NP_000199.2:n.*3402_*3404del
NM_001079817.1:c.*3402_*3404del NP_001073285.1:n.*3402_*3404del
NM_001079817.2:c.*3402_*3404del NP_001073285.1:n.*3402_*3404del
XM_011527988.1:c.*3402_*3404del XP_011526290.1:n.*3402_*3404del
XM_011527989.1:c.*3402_*3404del XP_011526291.1:n.*3402_*3404del
XM_011527988.2:c.*3402_*3404del XP_011526290.2:n.*3402_*3404del
XM_011527989.3:c.*3402_*3404del XP_011526291.2:n.*3402_*3404del
NM_000208.4:c.*3402_*3404del MANE Select NP_000199.2:n.*3402_*3404del
NM_001079817.3:c.*3402_*3404del NP_001073285.1:n.*3402_*3404del
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