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:
96618
ClinVar RCV Id:
RCV001390112
dbSNP Id:
rs398124601
gnomAD v2:
6-80816489-CCTGGCGCGGGG-C
gnomAD v3:
6-80106772-CCTGGCGCGGGG-C
gnomAD v4:
6-80106772-CCTGGCGCGGGG-C
MyVariant Identifiers:
chr6:g.80816503_80816513del (hg19)
chr6:g.80816490_80816500del (hg19)
chr6:g.80816503_80816513delGGCGCGGGGCT (hg19)
chr6:g.80106786_80106796del (hg38)
chr6:g.80106773_80106783del (hg38)
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106786_80106796del , CM000668.2:g.80106786_80106796del | GRCh38 |
| NC_000006.11:g.80816503_80816513del , CM000668.1:g.80816503_80816513del | GRCh37 |
| NC_000006.10:g.80873222_80873232del | NCBI36 |
| NG_009775.1:g.5160_5170del | |
| NG_009775.2:g.5160_5170del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320393.9:c.93_103del MANE Select | ENSP00000318351.5:p.Ala32PhefsTer? | |
| ENST00000320393.8:c.93_103del | ENSP00000318351.5:p.Ala32PhefsTer? | |
| ENST00000356489.9:c.93_103del | ENSP00000348880.5:p.Ala32PhefsTer? | |
| ENST00000369760.8:c.93_103del | ENSP00000358775.4:p.Ala32PhefsTer? | |
| NM_000056.3:c.93_103del | NP_000047.1:p.Ala32PhefsTer? | |
| NM_183050.2:c.93_103del | NP_898871.1:p.Ala32PhefsTer? | |
| XM_005248756.3:c.93_103del | XP_005248813.1:p.Ala32PhefsTer? | |
| XM_006715542.2:c.-15+103_-15+113del | XP_006715605.1:n.-15+103_-15+113del | |
| XM_011536023.1:c.93_103del | XP_011534325.1:p.Ala32PhefsTer? | |
| XM_011536024.1:c.93_103del | XP_011534326.1:p.Ala32PhefsTer? | |
| XM_011536025.1:c.93_103del | XP_011534327.1:p.Ala32PhefsTer? | |
| XM_011536027.1:c.93_103del | XP_011534329.1:p.Ala32PhefsTer? | |
| NM_000056.4:c.93_103del | NP_000047.1:p.Ala32PhefsTer? | |
| NM_001318975.1:c.-15+103_-15+113del | NP_001305904.1:n.-15+103_-15+113del | |
| NM_183050.3:c.93_103del | NP_898871.1:p.Ala32PhefsTer? | |
| NR_134945.1:n.177_187del | ||
| XM_005248756.5:c.93_103del | XP_005248813.1:p.Ala32PhefsTer? | |
| XM_011536023.3:c.93_103del | XP_011534325.1:p.Ala32PhefsTer? | |
| XM_011536024.3:c.93_103del | XP_011534326.1:p.Ala32PhefsTer? | |
| XM_011536025.3:c.93_103del | XP_011534327.1:p.Ala32PhefsTer? | |
| XR_001743546.2:n.123_133del | ||
| XR_001743547.2:n.123_133del | ||
| XR_001743548.2:n.123_133del | ||
| XR_001743549.2:n.123_133del | ||
| XR_002956292.1:n.123_133del | ||
| NM_183050.4:c.93_103del MANE Select | NP_898871.1:p.Ala32PhefsTer? | |
| NR_134945.2:n.116_126del | ||
| NM_000056.5:c.93_103del | NP_000047.1:p.Ala32PhefsTer? |