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:
2529
dbSNP Id:
rs587777807
gnomAD v2:
14-89336543-GTGC-G
gnomAD v4:
14-88870199-GTGC-G
PubMed:
PMID:14520415
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88870200_88870202del , CM000676.2:g.88870200_88870202del | GRCh38 |
| NC_000014.8:g.89336544_89336546del , CM000676.1:g.89336544_89336546del | GRCh37 |
| NC_000014.7:g.88406297_88406299del | NCBI36 |
| NG_008126.1:g.50567_50569del | |
| NG_008126.2:g.51048_51050del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380656.7:c.1049+2_1049+4del MANE Select | ENSP00000370031.2:n.1049+2_1049+4del | |
| ENST00000557580.3:c.414+2_414+4del | ENSP00000451955.2:n.414+2_414+4del | |
| ENST00000338104.10:c.1097+2_1097+4del | ENSP00000337653.6:n.1097+2_1097+4del | |
| ENST00000345383.9:c.1049+2_1049+4del | ENSP00000339486.6:n.1049+2_1049+4del | |
| ENST00000346301.8:c.929+2_929+4del | ENSP00000298324.6:n.929+2_929+4del | |
| ENST00000354441.10:c.254+2_254+4del | ENSP00000346427.6:n.254+2_254+4del | |
| ENST00000358622.9:c.455+2_455+4del | ENSP00000351439.5:n.455+2_455+4del | |
| ENST00000380656.6:c.1049+2_1049+4del | ENSP00000370031.2:n.1049+2_1049+4del | |
| ENST00000536576.5:c.929+2_929+4del | ENSP00000445067.2:n.929+2_929+4del | |
| ENST00000554686.5:c.898+2_898+4del | ||
| ENST00000555057.5:c.*456+2_*456+4del | ENSP00000450951.1:n.*456+2_*456+4del | |
| ENST00000557580.2:c.414+2_414+4del | ||
| ENST00000614125.4:c.1097+2_1097+4del | ENSP00000482306.1:n.1097+2_1097+4del | |
| ENST00000622513.4:c.1019+2_1019+4del | ENSP00000482721.1:n.1019+2_1019+4del | |
| NM_001288781.1:c.1097+2_1097+4del | NP_001275710.1:n.1097+2_1097+4del | |
| NM_001288782.1:c.455+2_455+4del | NP_001275711.1:n.455+2_455+4del | |
| NM_001288783.1:c.332+2_332+4del | NP_001275712.1:n.332+2_332+4del | |
| NM_144596.3:c.1049+2_1049+4del | NP_653197.2:n.1049+2_1049+4del | |
| NM_198309.3:c.1019+2_1019+4del | NP_938051.1:n.1019+2_1019+4del | |
| NM_198310.3:c.929+2_929+4del | NP_938052.1:n.929+2_929+4del | |
| XM_006720035.1:c.1019+2_1019+4del | XP_006720098.1:n.1019+2_1019+4del | |
| XM_006720037.2:c.929+2_929+4del | XP_006720100.1:n.929+2_929+4del | |
| XM_011536432.1:c.1097+2_1097+4del | XP_011534734.1:n.1097+2_1097+4del | |
| XM_011536433.1:c.1097+2_1097+4del | XP_011534735.1:n.1097+2_1097+4del | |
| XM_011536434.1:c.1007+2_1007+4del | XP_011534736.1:n.1007+2_1007+4del | |
| XM_011536435.1:c.332+2_332+4del | XP_011534737.1:n.332+2_332+4del | |
| NM_001366535.1:c.1019+2_1019+4del | NP_001353464.1:n.1019+2_1019+4del | |
| NM_001366536.1:c.929+2_929+4del | NP_001353465.1:n.929+2_929+4del | |
| NR_159362.1:n.1136+2_1136+4del | ||
| XM_011536433.2:c.1097+2_1097+4del | XP_011534735.1:n.1097+2_1097+4del | |
| XM_011536434.2:c.1007+2_1007+4del | XP_011534736.1:n.1007+2_1007+4del | |
| XM_024449477.1:c.332+2_332+4del | XP_024305245.1:n.332+2_332+4del | |
| NM_001366535.2:c.1019+2_1019+4del | NP_001353464.1:n.1019+2_1019+4del | |
| NM_001366536.2:c.929+2_929+4del | NP_001353465.1:n.929+2_929+4del | |
| NR_159362.2:n.1136+2_1136+4del | ||
| NM_144596.4:c.1049+2_1049+4del MANE Select | NP_653197.2:n.1049+2_1049+4del |