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:
189782
ClinVar RCV Id:
RCV000192088
dbSNP Id:
rs769441127
ExAC:
17:42148542 TC / T
gnomAD v2:
17-42148542-TC-T
gnomAD v3:
17-44071174-TC-T
gnomAD v4:
17-44071174-TC-T
MyVariant Identifiers:
chr17:g.42148543del (hg19)
chr17:g.42148543_42148546delinsTTC (hg19)
chr17:g.44071175del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44071175del , CM000679.2:g.44071175del | GRCh38 |
| NC_000017.10:g.42148543del , CM000679.1:g.42148543del | GRCh37 |
| NC_000017.9:g.39504069del | NCBI36 |
| NG_015818.1:g.5446del , LRG_182:g.5446del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585361.6:c.210del | ENSP00000466983.1:p.Phe71SerfsTer? | |
| ENST00000588558.6:c.210del | ENSP00000467624.1:p.Phe71SerfsTer? | |
| ENST00000590253.3:c.210del | ENSP00000465111.2:p.Phe71SerfsTer? | |
| ENST00000593115.2:c.210del | ENSP00000466821.1:p.Phe71SerfsTer? | |
| ENST00000696383.1:c.-311-453del | ENSP00000512593.1:n.-311-453del | |
| ENST00000696384.1:c.210del | ENSP00000512594.1:p.Phe71SerfsTer? | |
| ENST00000696385.1:c.210del | ENSP00000512595.1:p.Phe71SerfsTer? | |
| ENST00000696386.1:c.210del | ENSP00000512596.1:p.Phe71SerfsTer? | |
| ENST00000696387.1:c.210del | ENSP00000512597.1:p.Phe71SerfsTer? | |
| ENST00000696388.1:c.210del | ENSP00000512598.1:p.Phe71SerfsTer? | |
| ENST00000696389.1:c.210del | ENSP00000512599.1:p.Phe71SerfsTer? | |
| ENST00000696390.1:c.210del | ENSP00000512600.1:p.Phe71SerfsTer? | |
| ENST00000696391.1:c.210del | ENSP00000512601.1:p.Phe71SerfsTer? | |
| ENST00000696392.1:c.210del | ENSP00000512602.1:p.Phe71SerfsTer? | |
| ENST00000696393.1:c.210del | ENSP00000512603.1:p.Phe71SerfsTer? | |
| ENST00000696405.1:c.210del | ENSP00000512607.1:p.Phe71SerfsTer? | |
| ENST00000269097.9:c.210del MANE Select | ENSP00000269097.3:p.Phe71SerfsTer? | |
| ENST00000269097.8:c.210del | ENSP00000269097.3:p.Phe71SerfsTer? | |
| ENST00000585361.5:c.210del | ENSP00000466983.1:p.Phe71SerfsTer? | |
| ENST00000585962.1:n.263del | ||
| ENST00000588558.5:c.210del | ENSP00000467624.1:p.Phe71SerfsTer? | |
| ENST00000590639.1:n.9del | ||
| ENST00000591696.1:c.210del | ENSP00000468677.1:p.Phe71SerfsTer? | |
| ENST00000593115.1:c.210del | ENSP00000466821.1:p.Phe71SerfsTer? | |
| NM_138387.3:c.210del , LRG_182t1:c.210del | NP_612396.1:p.Phe71SerfsTer? | |
| NR_028581.1:n.446del | ||
| NR_028582.1:n.446del | ||
| XM_006722179.2:c.210del | XP_006722242.1:p.Phe71SerfsTer? | |
| XM_011525473.1:c.-320del | XP_011523775.1:n.-320del | |
| XM_011525474.1:c.-379del | XP_011523776.1:n.-379del | |
| NM_001319945.1:c.210del | NP_001306874.1:p.Phe71SerfsTer? | |
| XM_011525473.3:c.-320del | XP_011523775.1:n.-320del | |
| XM_011525474.3:c.-379del | XP_011523776.1:n.-379del | |
| XM_017025335.2:c.-311-453del | XP_016880824.1:n.-311-453del | |
| NM_001319945.2:c.210del | NP_001306874.1:p.Phe71SerfsTer? | |
| NR_028581.2:n.265del | ||
| NR_028582.2:n.265del | ||
| NM_001384165.1:c.-195del | NP_001371094.1:n.-195del | |
| NM_001384166.1:c.-330del | NP_001371095.1:n.-330del | |
| NM_001384167.1:c.-320del | NP_001371096.1:n.-320del | |
| NM_001384168.1:c.-311-453del | NP_001371097.1:n.-311-453del | |
| NM_138387.4:c.210del MANE Select | NP_612396.1:p.Phe71SerfsTer? |