Linked Data
ClinVar Variation Id:
402179
dbSNP Id:
rs199422146
ExAC:
1:197111651 GCT / G
gnomAD v2:
1-197111651-GCT-G
gnomAD v3:
1-197142521-GCT-G
gnomAD v4:
1-197142521-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197142524_197142525del , CM000663.2:g.197142524_197142525del | GRCh38 |
| NC_000001.10:g.197111654_197111655del , CM000663.1:g.197111654_197111655del | GRCh37 |
| NC_000001.9:g.195378277_195378278del | NCBI36 |
| NG_015867.1:g.9172_9173del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367409.9:c.1729_1730del MANE Select | ENSP00000356379.4:p.Ser577ArgfsTer? | |
| ENST00000679766.1:n.1946_1947del | ||
| ENST00000680265.1:c.1729_1730del | ENSP00000505384.1:p.Ser577ArgfsTer? | |
| ENST00000680710.1:c.1729_1730del | ENSP00000506676.1:p.Ser577ArgfsTer? | |
| ENST00000681879.1:c.1729_1730del | ENSP00000505363.1:p.Ser577ArgfsTer? | |
| ENST00000294732.11:c.1729_1730del | ENSP00000294732.7:p.Ser577ArgfsTer? | |
| ENST00000367409.8:c.1729_1730del | ENSP00000356379.4:p.Ser577ArgfsTer? | |
| ENST00000612785.1:c.561+1168_561+1169del | ENSP00000479244.1:n.561+1168_561+1169del | |
| NM_001206846.1:c.1729_1730del | NP_001193775.1:p.Ser577ArgfsTer? | |
| NM_018136.4:c.1729_1730del | NP_060606.3:p.Ser577ArgfsTer? | |
| NM_018136.5:c.1729_1730del MANE Select | NP_060606.3:p.Ser577ArgfsTer? | |
| NM_001206846.2:c.1729_1730del | NP_001193775.1:p.Ser577ArgfsTer? |