Linked Data
ClinVar Variation Id:
2201522
ClinVar RCV Id:
RCV002655003
dbSNP Id:
rs1462800083
gnomAD v3:
3-128483184-AGCATTTTAC-A
gnomAD v4:
3-128483184-AGCATTTTAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128483190_128483198del , CM000665.2:g.128483190_128483198del | GRCh38 |
| NC_000003.11:g.128202033_128202041del , CM000665.1:g.128202033_128202041del | GRCh37 |
| NC_000003.10:g.129684723_129684731del | NCBI36 |
| NG_029334.1:g.14995_15003del , LRG_295:g.14995_15003del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1017+667_1017+675del MANE Plus Clinical | ENSP00000417074.1:n.1017+667_1017+675del | |
| ENST00000696466.1:c.1299+667_1299+675del | ENSP00000512647.1:n.1299+667_1299+675del | |
| ENST00000341105.7:c.1017+667_1017+675del MANE Select | ENSP00000345681.2:n.1017+667_1017+675del | |
| ENST00000341105.6:c.1017+667_1017+675del | ENSP00000345681.2:n.1017+667_1017+675del | |
| ENST00000430265.6:c.1017+667_1017+675del | ENSP00000400259.2:n.1017+667_1017+675del | |
| ENST00000487848.5:c.1017+667_1017+675del | ENSP00000417074.1:n.1017+667_1017+675del | |
| NM_001145661.1:c.1017+667_1017+675del , LRG_295t1:c.1017+667_1017+675del | NP_001139133.1:n.1017+667_1017+675del | |
| NM_001145662.1:c.1017+667_1017+675del | NP_001139134.1:n.1017+667_1017+675del | |
| NM_032638.4:c.1017+667_1017+675del , LRG_295t2:c.1017+667_1017+675del | NP_116027.2:n.1017+667_1017+675del | |
| NM_001145661.2:c.1017+667_1017+675del MANE Plus Clinical | NP_001139133.1:n.1017+667_1017+675del | |
| NM_032638.5:c.1017+667_1017+675del MANE Select | NP_116027.2:n.1017+667_1017+675del |