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
dbSNP Id:
rs1337030208
gnomAD v2:
10-105793959-A-AGAT
gnomAD v4:
10-104034201-A-AGAT
MyVariant Identifiers:
chr10:g.105793959_105793960insGAT (hg19)
chr10:g.104034201_104034202insGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034204_104034206dup , CM000672.2:g.104034204_104034206dup | GRCh38 |
| NC_000010.10:g.105793962_105793964dup , CM000672.1:g.105793962_105793964dup | GRCh37 |
| NC_000010.9:g.105783952_105783954dup | NCBI36 |
| NG_007069.1:g.56677_56679dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369733.8:c.3651_3653dup | ENSP00000358748.3:p.Ser1218_Val1219insSer... | |
| ENST00000648076.2:c.3897_3899dup MANE Select | ENSP00000497653.1:p.Ser1300_Val1301insSer... | |
| ENST00000353479.9:c.3897_3899dup | ENSP00000340937.5:p.Ser1300_Val1301insSer... | |
| ENST00000369733.7:c.3651_3653dup | ENSP00000358748.3:p.Ser1218_Val1219insSer... | |
| NM_000494.3:c.3897_3899dup | NP_000485.3:p.Ser1300_Val1301insSer | |
| NM_000494.4:c.3897_3899dup MANE Select | NP_000485.3:p.Ser1300_Val1301insSer |