Linked Data
ClinVar Variation Id:
97565
ClinVar RCV Id:
RCV000083817
dbSNP Id:
rs104895372
gnomAD v4:
12-109596480-TTGAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109596483_109596486del , CM000674.2:g.109596483_109596486del | GRCh38 |
| NC_000012.11:g.110034288_110034291del , CM000674.1:g.110034288_110034291del | GRCh37 |
| NC_000012.10:g.108518671_108518674del | NCBI36 |
| NG_007702.1:g.27789_27792del , LRG_156:g.27789_27792del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.254_257del | ENSP00000439134.1:p.Asp85AlafsTer? | |
| ENST00000546277.6:c.1097_1100del | ENSP00000438153.2:p.Asp366AlafsTer? | |
| ENST00000636529.2:n.736_739del | ||
| ENST00000697195.1:c.*861_*864del | ENSP00000513181.1:n.*861_*864del | |
| ENST00000697196.1:c.*270_*273del | ENSP00000513182.1:n.*270_*273del | |
| ENST00000697197.1:n.3126_3129del | ||
| ENST00000697198.1:n.1481_1484del | ||
| ENST00000228510.8:c.1097_1100del MANE Select | ENSP00000228510.3:p.Asp366AlafsTer? | |
| ENST00000636529.1:c.722_725del | ||
| ENST00000636996.1:c.945_948del | ||
| ENST00000228510.7:c.1097_1100del | ENSP00000228510.3:p.Asp366AlafsTer? | |
| ENST00000392727.7:c.941_944del | ENSP00000376487.3:p.Asp314AlafsTer? | |
| ENST00000447878.6:c.*544_*547del | ENSP00000415555.2:n.*544_*547del | |
| ENST00000537237.5:c.*770_*773del | ENSP00000445382.1:n.*770_*773del | |
| ENST00000539575.4:c.1097_1100del | ENSP00000443551.2:p.Asp366AlafsTer? | |
| ENST00000539696.5:c.254_257del | ENSP00000439134.1:p.Asp85AlafsTer? | |
| ENST00000540353.1:n.3330_3333del | ||
| ENST00000625889.2:c.941_944del | ENSP00000486846.1:p.Asp314AlafsTer? | |
| ENST00000629016.2:c.*544_*547del | ENSP00000486804.1:n.*544_*547del | |
| NM_000431.3:c.1097_1100del | NP_000422.1:p.Asp366AlafsTer? | |
| NM_001114185.2:c.1097_1100del | NP_001107657.1:p.Asp366AlafsTer? | |
| NM_001301182.1:c.941_944del | NP_001288111.1:p.Asp314AlafsTer? | |
| XM_011538372.1:c.1097_1100del | XP_011536674.1:p.Asp366AlafsTer? | |
| XM_017019313.2:c.941_944del | XP_016874802.1:p.Asp314AlafsTer? | |
| XM_017019314.1:c.1097_1100del | XP_016874803.1:p.Asp366AlafsTer? | |
| NM_000431.4:c.1097_1100del MANE Select | NP_000422.1:p.Asp366AlafsTer? | |
| NM_001114185.3:c.1097_1100del | NP_001107657.1:p.Asp366AlafsTer? | |
| NM_001301182.2:c.941_944del | NP_001288111.1:p.Asp314AlafsTer? |