Linked Data
ClinVar Variation Id:
3053901
ClinVar RCV Id:
RCV003966836
dbSNP Id:
rs770430707
ExAC:
12:49579780 CAA / C
gnomAD v2:
12-49579780-CAA-C
gnomAD v3:
12-49185997-CAA-C
gnomAD v4:
12-49185997-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49186000_49186001del , CM000674.2:g.49186000_49186001del | GRCh38 |
| NC_000012.11:g.49579783_49579784del , CM000674.1:g.49579783_49579784del | GRCh37 |
| NC_000012.10:g.47866050_47866051del | NCBI36 |
| NG_008966.1:g.8080_8081del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.376-9_376-8del MANE Select | ENSP00000301071.7:n.376-9_376-8del | |
| ENST00000547939.6:c.271-9_271-8del | ENSP00000450268.2:n.271-9_271-8del | |
| ENST00000550767.6:c.271-9_271-8del | ENSP00000446637.1:n.271-9_271-8del | |
| ENST00000550811.2:n.1409-9_1409-8del | ||
| ENST00000552924.2:c.271-9_271-8del | ENSP00000448725.2:n.271-9_271-8del | |
| ENST00000679733.1:c.399-9_399-8del | ENSP00000505459.1:n.399-9_399-8del | |
| ENST00000295766.9:c.376-9_376-8del | ENSP00000439020.2:n.376-9_376-8del | |
| ENST00000301071.11:c.376-9_376-8del | ENSP00000301071.7:n.376-9_376-8del | |
| ENST00000546918.1:c.528-9_528-8del | ENSP00000446613.1:n.528-9_528-8del | |
| ENST00000547939.5:c.271-9_271-8del | ENSP00000450268.1:n.271-9_271-8del | |
| ENST00000550767.5:c.271-9_271-8del | ENSP00000446637.1:n.271-9_271-8del | |
| ENST00000552924.1:c.271-9_271-8del | ENSP00000448725.1:n.271-9_271-8del | |
| NM_001270399.1:c.376-9_376-8del | NP_001257328.1:n.376-9_376-8del | |
| NM_001270400.1:c.271-9_271-8del | NP_001257329.1:n.271-9_271-8del | |
| NM_006009.3:c.376-9_376-8del | NP_006000.2:n.376-9_376-8del | |
| NM_006009.4:c.376-9_376-8del MANE Select | NP_006000.2:n.376-9_376-8del | |
| NM_001270399.2:c.376-9_376-8del | NP_001257328.1:n.376-9_376-8del | |
| NM_001270400.2:c.271-9_271-8del | NP_001257329.1:n.271-9_271-8del |