UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
371665
dbSNP Id:
rs766720790
ExAC:
17:3402309 AAAAG / A
gnomAD v2:
17-3402309-AAAAG-A
gnomAD v4:
17-3499015-AAAAG-A
MyVariant Identifiers:
chr17:g.3402316_3402319del (hg19)
chr17:g.3402314_3402317del (hg19)
chr17:g.3402310_3402313del (hg19)
chr17:g.3499022_3499025del (hg38)
chr17:g.3499016_3499019del (hg38)
PubMed:
PMID:8659549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3499022_3499025del , CM000679.2:g.3499022_3499025del | GRCh38 |
| NC_000017.10:g.3402316_3402319del , CM000679.1:g.3402316_3402319del | GRCh37 |
| NC_000017.9:g.3349066_3349069del | NCBI36 |
| NG_008399.1:g.29913_29916del | |
| NG_008399.2:g.30377_30380del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263080.3:c.876_879del (ASPA) MANE Select | ENSP00000263080.2:p.Glu293LeufsTer8 | |
| ENST00000263080.2:c.876_879del (ASPA) | ENSP00000263080.2:p.Glu293LeufsTer8 | |
| ENST00000456349.6:c.876_879del (ASPA) | ENSP00000409976.2:p.Glu293LeufsTer8 | |
| ENST00000541913.5:c.-74+14393_-74+14396del (SPATA22) | ENSP00000441920.1:n.-74+14393_-74+14396del | |
| ENST00000570318.1:c.-74+14592_-74+14595del (SPATA22) | ENSP00000459147.1:n.-74+14592_-74+14595del | |
| NM_000049.2:c.876_879del (ASPA) | NP_000040.1:p.Glu293LeufsTer8 | |
| NM_001128085.1:c.876_879del (ASPA) | NP_001121557.1:p.Glu293LeufsTer8 | |
| XM_005256829.1:c.-74+14393_-74+14396del (SPATA22) | XP_005256886.1:n.-74+14393_-74+14396del | |
| XM_005256830.1:c.-74+14393_-74+14396del (SPATA22) | XP_005256887.1:n.-74+14393_-74+14396del | |
| XM_006721527.2:c.876_879del (ASPA) | XP_006721590.1:p.Glu293LeufsTer8 | |
| NM_001321336.1:c.-74+14393_-74+14396del (SPATA22) | NP_001308265.1:n.-74+14393_-74+14396del | |
| NM_001321337.1:c.-74+14393_-74+14396del (SPATA22) | NP_001308266.1:n.-74+14393_-74+14396del | |
| XM_017024661.1:c.876_879del (ASPA) | XP_016880150.1:p.Glu293LeufsTer8 | |
| XM_024450764.1:c.876_879del (ASPA) | XP_024306532.1:p.Glu293LeufsTer8 | |
| XR_934026.2:n.1143_1146del (ASPA) | ||
| NM_000049.3:c.876_879del (ASPA) | NP_000040.1:p.Glu293LeufsTer8 | |
| NM_000049.4:c.876_879del (ASPA) MANE Select | NP_000040.1:p.Glu293LeufsTer8 | |
| NM_001321336.2:c.-74+14393_-74+14396del (SPATA22) | NP_001308265.1:n.-74+14393_-74+14396del | |
| NM_001321337.2:c.-74+14393_-74+14396del (SPATA22) | NP_001308266.1:n.-74+14393_-74+14396del |