Linked Data
ClinVar Variation Id:
264993
dbSNP Id:
rs770214071
ExAC:
12:53702252 TCAGA / T
gnomAD v2:
12-53702252-TCAGA-T
gnomAD v3:
12-53308468-TCAGA-T
gnomAD v4:
12-53308468-TCAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53308473_53308476del , CM000674.2:g.53308473_53308476del | GRCh38 |
| NC_000012.11:g.53702257_53702260del , CM000674.1:g.53702257_53702260del | GRCh37 |
| NC_000012.10:g.51988524_51988527del | NCBI36 |
| NG_016775.1:g.18157_18160del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1144_1147del MANE Select | ENSP00000209873.4:p.Ser382ArgfsTer? | |
| ENST00000546562.6:n.2208_2211del | ||
| ENST00000547238.6:n.1780_1783del | ||
| ENST00000547520.6:n.1138_1141del | ||
| ENST00000547757.2:c.193_196del | ENSP00000448020.2:p.Ser65ArgfsTer? | |
| ENST00000548880.2:n.1594_1597del | ||
| ENST00000548931.6:c.664_667del | ENSP00000457518.1:p.Ser222ArgfsTer? | |
| ENST00000549450.6:n.1078_1081del | ||
| ENST00000552161.6:n.2100_2103del | ||
| ENST00000672797.1:n.1633_1636del | ||
| ENST00000672900.1:n.2086_2089del | ||
| ENST00000209873.8:c.1144_1147del | ENSP00000209873.4:p.Ser382ArgfsTer? | |
| ENST00000394384.7:c.1045_1048del | ENSP00000377908.3:p.Ser349ArgfsTer? | |
| ENST00000548931.5:c.664_667del | ENSP00000457518.1:p.Ser222ArgfsTer? | |
| ENST00000550033.5:n.399_402del | ||
| ENST00000550286.5:c.772_775del | ENSP00000446885.1:p.Ser258ArgfsTer? | |
| ENST00000552876.5:n.1487_1490del | ||
| NM_001173466.1:c.1045_1048del | NP_001166937.1:p.Ser349ArgfsTer? | |
| NM_015665.5:c.1144_1147del | NP_056480.1:p.Ser382ArgfsTer? | |
| XM_006719617.2:c.1159_1162del | XP_006719680.1:p.Ser387ArgfsTer? | |
| XM_011538777.1:c.1159_1162del | XP_011537079.1:p.Ser387ArgfsTer? | |
| XM_011538778.1:c.1144_1147del | XP_011537080.1:p.Ser382ArgfsTer? | |
| XM_011538779.1:c.1060_1063del | XP_011537081.1:p.Ser354ArgfsTer? | |
| XM_011538780.1:c.1045_1048del | XP_011537082.1:p.Ser349ArgfsTer? | |
| XM_011538781.1:c.493_496del | XP_011537083.1:p.Ser165ArgfsTer? | |
| XM_011538778.2:c.1144_1147del | XP_011537080.1:p.Ser382ArgfsTer? | |
| XM_011538780.2:c.1045_1048del | XP_011537082.1:p.Ser349ArgfsTer? | |
| XR_001748875.2:n.1201_1204del | ||
| NM_015665.6:c.1144_1147del MANE Select | NP_056480.1:p.Ser382ArgfsTer? | |
| NM_001173466.2:c.1045_1048del | NP_001166937.1:p.Ser349ArgfsTer? |