Linked Data
ClinVar Variation Id:
97589
ClinVar RCV Id:
RCV000083841
dbSNP Id:
rs104895323
gnomAD v3:
12-109581440-CG-C
gnomAD v4:
12-109581440-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109581444del , CM000674.2:g.109581444del | GRCh38 |
| NC_000012.11:g.110019249del , CM000674.1:g.110019249del | GRCh37 |
| NC_000012.10:g.108503632del | NCBI36 |
| NG_007702.1:g.12750del , LRG_156:g.12750del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.-92+7571del | ENSP00000439134.1:n.-92+7571del | |
| ENST00000546277.6:c.421del | ENSP00000438153.2:p.Ala141ArgfsTer18 | |
| ENST00000636529.2:n.79-4578del | ||
| ENST00000697195.1:c.*185del | ENSP00000513181.1:n.*185del | |
| ENST00000697196.1:c.421del | ENSP00000513182.1:p.Ala141ArgfsTer18 | |
| ENST00000228510.8:c.421del MANE Select | ENSP00000228510.3:p.Ala141ArgfsTer18 | |
| ENST00000636529.1:c.65-4578del | ||
| ENST00000636996.1:c.269del | ||
| ENST00000228510.7:c.421del | ENSP00000228510.3:p.Ala141ArgfsTer18 | |
| ENST00000392727.7:c.371+1498del | ENSP00000376487.3:n.371+1498del | |
| ENST00000447878.6:c.227-4578del | ENSP00000415555.2:n.227-4578del | |
| ENST00000535044.1:n.472-4578del | ||
| ENST00000537237.5:c.*185del | ENSP00000445382.1:n.*185del | |
| ENST00000539335.5:c.421del | ENSP00000440379.1:p.Ala141ArgfsTer18 | |
| ENST00000539575.4:c.421del | ENSP00000443551.2:p.Ala141ArgfsTer18 | |
| ENST00000539696.5:c.-92+7571del | ENSP00000439134.1:n.-92+7571del | |
| ENST00000545774.5:c.227-4578del | ENSP00000443978.1:n.227-4578del | |
| ENST00000546277.5:c.421del | ENSP00000438153.1:p.Ala141ArgfsTer18 | |
| ENST00000625889.2:c.371+1498del | ENSP00000486846.1:n.371+1498del | |
| ENST00000629016.2:c.227-4578del | ENSP00000486804.1:n.227-4578del | |
| NM_000431.3:c.421del | NP_000422.1:p.Ala141ArgfsTer18 | |
| NM_001114185.2:c.421del | NP_001107657.1:p.Ala141ArgfsTer18 | |
| NM_001301182.1:c.371+1498del | NP_001288111.1:n.371+1498del | |
| XM_011538372.1:c.421del | XP_011536674.1:p.Ala141ArgfsTer18 | |
| XM_017019313.2:c.371+1498del | XP_016874802.1:n.371+1498del | |
| XM_017019314.1:c.421del | XP_016874803.1:p.Ala141ArgfsTer18 | |
| XM_024448982.1:c.421del | XP_024304750.1:p.Ala141ArgfsTer18 | |
| NM_000431.4:c.421del MANE Select | NP_000422.1:p.Ala141ArgfsTer18 | |
| NM_001114185.3:c.421del | NP_001107657.1:p.Ala141ArgfsTer18 | |
| NM_001301182.2:c.371+1498del | NP_001288111.1:n.371+1498del |