Canonical Allele Identifier: CA10652854
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 330406
ClinVar RCV Id: RCV000292651 RCV000332408 RCV000386880
dbSNP Id: rs3833238
gnomAD v2: 19-7115650-GT-G
gnomAD v3: 19-7115639-GT-G
gnomAD v4: 19-7115639-GT-G
COSMIC: COSN20115397 COSN20115398 COSN20115399
MyVariant Identifiers: chr19:g.7115651del (hg19) chr19:g.7115640del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7115641del , CM000681.2:g.7115641del GRCh38
NC_000019.9:g.7115652del , CM000681.1:g.7115652del GRCh37
NC_000019.8:g.7066652del NCBI36
NG_008852.2:g.183361del

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.*1416del MANE Select ENSP00000303830.4:n.*1416del
ENST00000341500.9:c.*1416del ENSP00000342838.4:n.*1416del
NM_000208.2:c.*1416del NP_000199.2:n.*1416del
NM_000208.3:c.*1416del NP_000199.2:n.*1416del
NM_001079817.1:c.*1416del NP_001073285.1:n.*1416del
NM_001079817.2:c.*1416del NP_001073285.1:n.*1416del
XM_011527988.1:c.*1416del XP_011526290.1:n.*1416del
XM_011527989.1:c.*1416del XP_011526291.1:n.*1416del
XM_011527988.2:c.*1416del XP_011526290.2:n.*1416del
XM_011527989.3:c.*1416del XP_011526291.2:n.*1416del
NM_000208.4:c.*1416del MANE Select NP_000199.2:n.*1416del
NM_001079817.3:c.*1416del NP_001073285.1:n.*1416del
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