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:
417831
ClinVar RCV Id:
RCV003644985
dbSNP Id:
rs1060505051
gnomAD v2:
17-41243899-ATAAGT-A
gnomAD v4:
17-43091882-ATAAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091884_43091888del , CM000679.2:g.43091884_43091888del | GRCh38 |
| NC_000017.10:g.41243901_41243905del , CM000679.1:g.41243901_41243905del | GRCh37 |
| NC_000017.9:g.38497427_38497431del | NCBI36 |
| NG_005905.2:g.126097_126101del , LRG_292:g.126097_126101del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.3708_3712del | ||
| ENST00000461574.2:c.3644_3648del | ENSP00000417241.2:p.Asn1215IlefsTer2 | |
| ENST00000470026.6:c.3644_3648del | ENSP00000419274.2:p.Asn1215IlefsTer2 | |
| ENST00000473961.6:c.3518_3522del | ENSP00000420201.2:p.Asn1173IlefsTer2 | |
| ENST00000476777.6:c.3641_3645del | ENSP00000417554.2:p.Asn1214IlefsTer2 | |
| ENST00000477152.6:c.3566_3570del | ENSP00000419988.2:p.Asn1189IlefsTer2 | |
| ENST00000478531.6:c.785-855_785-851del | ENSP00000420412.2:n.785-855_785-851del | |
| ENST00000489037.2:c.3566_3570del | ENSP00000420781.2:p.Asn1189IlefsTer2 | |
| ENST00000493919.6:c.647-855_647-851del | ENSP00000418819.2:n.647-855_647-851del | |
| ENST00000494123.6:c.3644_3648del | ENSP00000419103.2:p.Asn1215IlefsTer2 | |
| ENST00000497488.2:c.2756_2760del | ENSP00000418986.2:p.Asn919IlefsTer2 | |
| ENST00000618469.2:c.3644_3648del | ENSP00000478114.2:p.Asn1215IlefsTer2 | |
| ENST00000634433.2:c.3521_3525del | ENSP00000489431.2:p.Asn1174IlefsTer2 | |
| ENST00000644379.2:c.3644_3648del | ENSP00000496570.2:p.Asn1215IlefsTer2 | |
| ENST00000644555.2:c.647-855_647-851del | ENSP00000494614.2:n.647-855_647-851del | |
| ENST00000652672.2:c.3503_3507del | ENSP00000498906.2:p.Asn1168IlefsTer2 | |
| ENST00000484087.6:c.665-855_665-851del | ENSP00000419481.2:n.665-855_665-851del | |
| ENST00000700182.1:c.707-855_707-851del | ENSP00000514849.1:n.707-855_707-851del | |
| ENST00000357654.9:c.3644_3648del MANE Select | ENSP00000350283.3:p.Asn1215IlefsTer2 | |
| ENST00000471181.7:c.3644_3648del | ENSP00000418960.2:p.Asn1215IlefsTer2 | |
| ENST00000352993.7:c.671-855_671-851del | ENSP00000312236.5:n.671-855_671-851del | |
| ENST00000354071.7:c.3644_3648del | ENSP00000326002.7:p.Asn1215IlefsTer2 | |
| ENST00000357654.7:c.3644_3648del | ENSP00000350283.3:p.Asn1215IlefsTer2 | |
| ENST00000461221.5:c.*3427_*3431del | ENSP00000418548.1:n.*3427_*3431del | |
| ENST00000468300.5:c.788-855_788-851del | ENSP00000417148.1:n.788-855_788-851del | |
| ENST00000471181.6:c.3644_3648del | ENSP00000418960.2:p.Asn1215IlefsTer2 | |
| ENST00000478531.5:c.785-855_785-851del | ENSP00000420412.1:n.785-855_785-851del | |
| ENST00000484087.5:c.410-855_410-851del | ENSP00000419481.1:n.410-855_410-851del | |
| ENST00000487825.5:c.413-855_413-851del | ENSP00000418212.1:n.413-855_413-851del | |
| ENST00000491747.6:c.788-855_788-851del | ENSP00000420705.2:n.788-855_788-851del | |
| ENST00000493795.5:c.3503_3507del | ENSP00000418775.1:p.Asn1168IlefsTer2 | |
| ENST00000493919.5:c.647-855_647-851del | ENSP00000418819.1:n.647-855_647-851del | |
| ENST00000586385.5:c.5-27936_5-27932del | ENSP00000465818.1:n.5-27936_5-27932del | |
| ENST00000591534.5:c.-43-17366_-43-17362del | ENSP00000467329.1:n.-43-17366_-43-17362de... | |
| ENST00000591849.5:c.-99+33384_-99+33388del | ENSP00000465347.1:n.-99+33384_-99+33388de... | |
| NM_007294.3:c.3644_3648del , LRG_292t1:c.3644_3648del | NP_009225.1:p.Asn1215IlefsTer2 | |
| NM_007297.3:c.3503_3507del | NP_009228.2:p.Asn1168IlefsTer2 | |
| NM_007298.3:c.788-855_788-851del | NP_009229.2:n.788-855_788-851del | |
| NM_007299.3:c.788-855_788-851del | NP_009230.2:n.788-855_788-851del | |
| NM_007300.3:c.3644_3648del | NP_009231.2:p.Asn1215IlefsTer2 | |
| NR_027676.1:n.3780_3784del | ||
| NM_007294.4:c.3644_3648del MANE Select | NP_009225.1:p.Asn1215IlefsTer2 | |
| NM_007297.4:c.3503_3507del | NP_009228.2:p.Asn1168IlefsTer2 | |
| NM_007299.4:c.788-855_788-851del | NP_009230.2:n.788-855_788-851del | |
| NM_007300.4:c.3644_3648del | NP_009231.2:p.Asn1215IlefsTer2 | |
| NR_027676.2:n.3821_3825del |