Linked Data
ClinVar Variation Id:
44169
ClinVar RCV Id:
RCV000037145
dbSNP Id:
rs397516643
MyVariant Identifiers:
chr1:g.116275548_116275550delinsGT (hg19)
chr1:g.115732927_115732929delinsGT (hg38)
PubMed:
PMID:12386154
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732927_115732929delinsGT , CM000663.2:g.115732927_115732929delinsGT | GRCh38 |
| NC_000001.10:g.116275548_116275550delinsGT , CM000663.1:g.116275548_116275550delinsGT | GRCh37 |
| NC_000001.9:g.116077071_116077073delinsGT | NCBI36 |
| NG_008802.1:g.40877_40879delinsAC , LRG_404:g.40877_40879delinsAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.302_304delinsAC | ENSP00000518226.1:p.Ile101AsnfsTer17 | |
| ENST00000261448.6:c.578_580delinsAC MANE Select | ENSP00000261448.5:p.Ile193AsnfsTer17 | |
| ENST00000261448.5:c.578_580delinsAC | ENSP00000261448.5:p.Ile193AsnfsTer17 | |
| NM_001232.3:c.578_580delinsAC , LRG_404t1:c.578_580delinsAC | NP_001223.2:p.Ile193AsnfsTer17 | |
| NM_001232.4:c.578_580delinsAC MANE Select | NP_001223.2:p.Ile193AsnfsTer17 |