WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
42403
ClinVar RCV Id:
RCV000035245
dbSNP Id:
rs397515834
MyVariant Identifiers:
chr15:g.48726891_48726892delinsC (hg19)
chr15:g.48434694_48434695delinsC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48434694_48434695delinsC , CM000677.2:g.48434694_48434695delinsC | GRCh38 |
| NC_000015.9:g.48726891_48726892delinsC , CM000677.1:g.48726891_48726892delinsC | GRCh37 |
| NC_000015.8:g.46514183_46514184delinsC | NCBI36 |
| NG_008805.2:g.216094_216095delinsG , LRG_778:g.216094_216095delinsG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.6515_6516delinsG | ENSP00000453958.2:p.Val2172GlyfsTer13 | |
| ENST00000674301.2:c.6515_6516delinsG | ENSP00000501333.2:p.Val2172GlyfsTer13 | |
| ENST00000682170.1:n.124_125delinsG | ||
| ENST00000316623.10:c.6515_6516delinsG MANE Select | ENSP00000325527.5:p.Val2172GlyfsTer13 | |
| ENST00000674301.1:c.1514_1515delinsG | ENSP00000501333.1:p.Val505GlyfsTer13 | |
| ENST00000316623.9:c.6515_6516delinsG | ENSP00000325527.5:p.Val2172GlyfsTer13 | |
| ENST00000537463.6:c.*2278_*2279delinsG | ENSP00000440294.2:n.*2278_*2279delinsG | |
| ENST00000559133.5:c.1822_1823delinsG | ||
| NM_000138.4:c.6515_6516delinsG , LRG_778t1:c.6515_6516delinsG | NP_000129.3:p.Val2172GlyfsTer13 | |
| NM_000138.5:c.6515_6516delinsG MANE Select | NP_000129.3:p.Val2172GlyfsTer13 |