Linked Data
ClinVar Variation Id:
370773
ClinVar RCV Id:
RCV000411211
dbSNP Id:
rs1057516755
gnomAD v4:
15-72348074-CTTGA-C
PubMed:
PMID:16088929
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72348075_72348078del , CM000677.2:g.72348075_72348078del | GRCh38 |
| NC_000015.9:g.72640416_72640419del , CM000677.1:g.72640416_72640419del | GRCh37 |
| NC_000015.8:g.70427470_70427473del | NCBI36 |
| NG_009017.1:g.33102_33105del | |
| NG_009017.2:g.33102_33105del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563908.2:n.3389_3392del | ||
| ENST00000567027.6:c.1043_1046del | ENSP00000457521.2:p.Phe348CysfsTer? | |
| ENST00000682061.1:c.*705_*708del | ENSP00000508316.1:n.*705_*708del | |
| ENST00000682177.1:c.1086_1089del | ENSP00000507409.1:n.1086_1089del | |
| ENST00000682461.1:c.1149_1152del | ENSP00000507308.1:n.1149_1152del | |
| ENST00000682653.1:n.1074_1077del | ||
| ENST00000682657.1:c.*453_*456del | ENSP00000507753.1:n.*453_*456del | |
| ENST00000682721.1:c.*846_*849del | ENSP00000507535.1:n.*846_*849del | |
| ENST00000682843.1:c.*941_*944del | ENSP00000508173.1:n.*941_*944del | |
| ENST00000683003.1:c.*453_*456del | ENSP00000507576.1:n.*453_*456del | |
| ENST00000683133.1:c.1227_1230del | ENSP00000508108.1:n.1227_1230del | |
| ENST00000683228.1:n.1074_1077del | ||
| ENST00000683243.1:c.*453_*456del | ENSP00000507042.1:n.*453_*456del | |
| ENST00000683463.1:c.1043_1046del | ENSP00000507986.1:p.Phe348CysfsTer? | |
| ENST00000683548.1:n.1074_1077del | ||
| ENST00000683579.1:c.*941_*944del | ENSP00000506867.1:n.*941_*944del | |
| ENST00000683587.1:n.1074_1077del | ||
| ENST00000683681.1:c.1043_1046del | ENSP00000508110.1:p.Phe348CysfsTer? | |
| ENST00000683735.1:c.*941_*944del | ENSP00000508336.1:n.*941_*944del | |
| ENST00000683742.1:n.874_877del | ||
| ENST00000683853.1:c.1043_1046del | ENSP00000506834.1:p.Phe348CysfsTer? | |
| ENST00000683860.1:c.1043_1046del | ENSP00000507179.1:p.Phe348CysfsTer? | |
| ENST00000683884.1:c.1043_1046del | ENSP00000507004.1:p.Phe348CysfsTer? | |
| ENST00000684041.1:c.1043_1046del | ENSP00000508382.1:p.Phe348CysfsTer? | |
| ENST00000684125.1:c.1043_1046del | ENSP00000507320.1:p.Phe348CysfsTer? | |
| ENST00000684203.1:n.2881_2884del | ||
| ENST00000684231.1:c.*453_*456del | ENSP00000507748.1:n.*453_*456del | |
| ENST00000684263.1:c.1043_1046del | ENSP00000508369.1:p.Phe348CysfsTer? | |
| ENST00000684305.1:c.1491_1494del | ENSP00000506819.1:n.1491_1494del | |
| ENST00000684415.1:c.1043_1046del | ENSP00000507227.1:p.Phe348CysfsTer? | |
| ENST00000684520.1:c.1043_1046del | ENSP00000506826.1:p.Phe348CysfsTer? | |
| ENST00000684602.1:c.*709_*712del | ENSP00000507996.1:n.*709_*712del | |
| ENST00000684667.1:c.1374_1377del | ENSP00000507003.1:n.1374_1377del | |
| ENST00000268097.10:c.1043_1046del MANE Select | ENSP00000268097.6:p.Phe348CysfsTer? | |
| ENST00000268097.9:c.1043_1046del | ENSP00000268097.5:p.Phe348CysfsTer? | |
| ENST00000379915.4:c.413-1753_413-1750del | ENSP00000478716.1:n.413-1753_413-1750del | |
| ENST00000563762.5:c.795_798del | ENSP00000456346.1:n.795_798del | |
| ENST00000566304.5:c.1076_1079del | ENSP00000455114.1:p.Phe359CysfsTer? | |
| ENST00000566672.5:c.*453_*456del | ENSP00000457037.1:n.*453_*456del | |
| ENST00000567027.5:c.915_918del | ||
| ENST00000567159.5:c.1043_1046del | ENSP00000456489.1:p.Phe348CysfsTer? | |
| ENST00000567411.5:c.*564_*567del | ENSP00000455545.1:n.*564_*567del | |
| ENST00000568777.5:n.6447_6450del | ||
| ENST00000569410.5:c.1043_1046del | ENSP00000457125.1:p.Phe348CysfsTer? | |
| NM_000520.4:c.1043_1046del | NP_000511.2:p.Phe348CysfsTer? | |
| NM_000520.5:c.1043_1046del | NP_000511.2:p.Phe348CysfsTer? | |
| NM_001318825.1:c.1076_1079del | NP_001305754.1:p.Phe359CysfsTer? | |
| NR_134869.1:n.1544_1547del | ||
| NM_000520.6:c.1043_1046del MANE Select | NP_000511.2:p.Phe348CysfsTer? | |
| NM_001318825.2:c.1076_1079del | NP_001305754.1:p.Phe359CysfsTer? | |
| NR_134869.2:n.1085_1088del | ||
| NR_134869.3:n.1085_1088del |