Canonical Allele Identifier: CA658684219
Gene: INSR HGNC NCBI

Linked Data

ClinVar Variation Id: 430587
ClinVar RCV Id: RCV000578857
MyVariant Identifiers: chr19:g.7150507_7152938del (hg19) chr19:g.7150497_7152928del (hg38)
PubMed: PMID:9249867 PMID:23969187 PMID:25358339 PMID:29082893
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7150497_7152928del , CM000681.2:g.7150497_7152928del GRCh38
NC_000019.9:g.7150508_7152939del , CM000681.1:g.7150508_7152939del GRCh37
NC_000019.8:g.7101508_7103939del NCBI36
NG_008852.2:g.146074_148505del

Transcript Alleles

HGVS Amino-acid change
ENST00000302850.10:c.2030_2267+1del
ENST00000302850.9:c.2030_2267+1del
ENST00000341500.9:c.2030_2231+2230del
NM_000208.2:c.2030_2267+1del
NM_000208.3:c.2030_2267+1del
NM_001079817.1:c.2030_2231+2230del
NM_001079817.2:c.2030_2231+2230del
XM_011527988.1:c.2108_2345+1del
XM_011527989.1:c.2108_2309+2230del
XM_011527988.2:c.2030_2267+1del
XM_011527989.3:c.2030_2231+2230del
NM_000208.4:c.2030_2267+1del
NM_001079817.3:c.2030_2231+2230del
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