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:
551472
ClinVar RCV Id:
RCV000666540
dbSNP Id:
rs1554095395
MyVariant Identifiers:
chr5:g.149981549_149981550dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981549_149981550dup , CM000667.2:g.149981549_149981550dup | GRCh38 |
| NC_000005.9:g.149361112_149361113dup , CM000667.1:g.149361112_149361113dup | GRCh37 |
| NC_000005.8:g.149341305_149341306dup | NCBI36 |
| NG_007147.2:g.22667_22668dup , LRG_684:g.22667_22668dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286298.5:c.1956_1957dup MANE Select | ENSP00000286298.4:p.Cys653SerfsTer8 | |
| ENST00000286298.4:c.1956_1957dup | ENSP00000286298.4:p.Cys653SerfsTer8 | |
| ENST00000503336.1:c.372+3198_372+3199dup | ENSP00000426053.1:n.372+3198_372+3199dup | |
| NM_000112.3:c.1956_1957dup , LRG_684t1:c.1956_1957dup | NP_000103.2:p.Cys653SerfsTer8 | |
| XM_017009191.2:c.1956_1957dup | XP_016864680.1:p.Cys653SerfsTer8 | |
| NM_000112.4:c.1956_1957dup MANE Select | NP_000103.2:p.Cys653SerfsTer8 |