Linked Data
dbSNP Id:
rs760292181
ExAC:
7:55268943 TGAA / T
gnomAD v2:
7-55268943-TGAA-T
gnomAD v4:
7-55201250-TGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55201256_55201258del , CM000669.2:g.55201256_55201258del | GRCh38 |
| NC_000007.13:g.55268949_55268951del , CM000669.1:g.55268949_55268951del | GRCh37 |
| NC_000007.12:g.55236443_55236445del | NCBI36 |
| NG_007726.3:g.187225_187227del , LRG_304:g.187225_187227del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2856_2858del | ENSP00000413354.2:p.Glu952del | |
| ENST00000700145.1:c.900-4091_900-4089del | ||
| ENST00000700146.1:n.759_761del | ||
| ENST00000700147.1:n.684_686del | ||
| ENST00000275493.7:c.3015_3017del MANE Select | ENSP00000275493.2:p.Glu1005del | |
| ENST00000275493.6:c.3015_3017del | ENSP00000275493.2:p.Glu1005del | |
| ENST00000442591.5:c.*28+28328_*28+28330del | ENSP00000410031.1:n.*28+28328_*28+28330del | |
| ENST00000454757.6:c.2880_2882del | ENSP00000395243.3:p.Glu960del | |
| ENST00000455089.5:c.2880_2882del | ENSP00000415559.1:p.Glu960del | |
| NM_005228.3:c.3015_3017del , LRG_304t1:c.3015_3017del | NP_005219.2:p.Glu1005del | |
| NM_001346897.1:c.2880_2882del | NP_001333826.1:p.Glu960del | |
| NM_001346898.1:c.3015_3017del | NP_001333827.1:p.Glu1005del | |
| NM_001346899.1:c.2880_2882del | NP_001333828.1:p.Glu960del | |
| NM_001346900.1:c.2856_2858del | NP_001333829.1:p.Glu952del | |
| NM_001346941.1:c.2214_2216del | NP_001333870.1:p.Glu738del | |
| NM_005228.4:c.3015_3017del | NP_005219.2:p.Glu1005del | |
| NM_005228.5:c.3015_3017del MANE Select | NP_005219.2:p.Glu1005del | |
| NM_001346897.2:c.2880_2882del | NP_001333826.1:p.Glu960del | |
| NM_001346898.2:c.3015_3017del | NP_001333827.1:p.Glu1005del | |
| NM_001346900.2:c.2856_2858del | NP_001333829.1:p.Glu952del | |
| NM_001346941.2:c.2214_2216del | NP_001333870.1:p.Glu738del | |
| NM_001346899.2:c.2880_2882del | NP_001333828.1:p.Glu960del |