Linked Data
dbSNP Id:
rs1327984491
gnomAD v2:
5-127061865-AAT-A
gnomAD v3:
5-127726173-AAT-A
gnomAD v4:
5-127726173-AAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127726178_127726179del , CM000667.2:g.127726178_127726179del | GRCh38 |
| NC_000005.9:g.127061870_127061871del , CM000667.1:g.127061870_127061871del | GRCh37 |
| NC_000005.8:g.127089769_127089770del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706942.1:c.171+18418_171+18419del | ENSP00000516662.1:n.171+18418_171+18419de... | |
| ENST00000514853.5:c.114+18418_114+18419del MANE Select | ENSP00000490579.2:n.114+18418_114+18419de... | |
| ENST00000514853.4:c.114+18418_114+18419del | ENSP00000490579.2:n.114+18418_114+18419de... | |
| XR_159059.3:n.203+18418_203+18419del | ||
| XR_246581.3:n.137+18418_137+18419del | ||
| XR_948749.1:n.128+18418_128+18419del | ||
| XR_948750.1:n.296+18418_296+18419del | ||
| XR_948751.1:n.300+16100_300+16101del | ||
| XR_948753.1:n.206+18418_206+18419del | ||
| XR_948754.1:n.205+18418_205+18419del | ||
| XR_948755.1:n.204+18418_204+18419del | ||
| XR_948756.1:n.204+18418_204+18419del | ||
| XR_948757.1:n.204+18418_204+18419del | ||
| XR_948758.1:n.204+18418_204+18419del | ||
| XR_948759.1:n.204+18418_204+18419del | ||
| XR_948760.1:n.223+18418_223+18419del | ||
| XR_948761.1:n.223+18418_223+18419del | ||
| XR_948762.1:n.204+18418_204+18419del | ||
| XR_948763.1:n.206+18418_206+18419del | ||
| XR_948764.1:n.205+18418_205+18419del | ||
| XR_948765.1:n.204+18418_204+18419del | ||
| XR_948766.1:n.204+18418_204+18419del | ||
| NM_001317938.1:c.171+18418_171+18419del | NP_001304867.1:n.171+18418_171+18419del | |
| XM_017009806.2:c.51+18418_51+18419del | XP_016865295.1:n.51+18418_51+18419del | |
| XM_017009807.1:c.51+18418_51+18419del | XP_016865296.1:n.51+18418_51+18419del | |
| XM_017009809.2:c.171+18418_171+18419del | XP_016865298.1:n.171+18418_171+18419del | |
| XM_017009810.2:c.171+18418_171+18419del | XP_016865299.1:n.171+18418_171+18419del | |
| XM_017009811.2:c.171+18418_171+18419del | XP_016865300.1:n.171+18418_171+18419del | |
| XM_017009812.2:c.171+18418_171+18419del | XP_016865301.1:n.171+18418_171+18419del | |
| XM_017009813.2:c.171+18418_171+18419del | XP_016865302.1:n.171+18418_171+18419del | |
| XM_024446203.1:c.51+18418_51+18419del | XP_024301971.1:n.51+18418_51+18419del | |
| XR_002956177.1:n.137+18418_137+18419del | ||
| XR_948757.3:n.204+18418_204+18419del | ||
| NM_001317938.2:c.114+18418_114+18419del MANE Select | NP_001304867.2:n.114+18418_114+18419del |