Linked Data
ClinVar Variation Id:
21552
ClinVar RCV Id:
RCV000020742
dbSNP Id:
rs199422139
ExAC:
1:197112115 GGACTTGA / G
gnomAD v2:
1-197112115-GGACTTGA-G
gnomAD v4:
1-197142985-GGACTTGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197142988_197142994del , CM000663.2:g.197142988_197142994del | GRCh38 |
| NC_000001.10:g.197112118_197112124del , CM000663.1:g.197112118_197112124del | GRCh37 |
| NC_000001.9:g.195378741_195378747del | NCBI36 |
| NG_015867.1:g.8703_8709del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367409.9:c.1260_1266del MANE Select | ENSP00000356379.4:p.Gln421HisfsTer? | |
| ENST00000679766.1:n.1477_1483del | ||
| ENST00000680265.1:c.1260_1266del | ENSP00000505384.1:p.Gln421HisfsTer? | |
| ENST00000680710.1:c.1260_1266del | ENSP00000506676.1:p.Gln421HisfsTer? | |
| ENST00000681879.1:c.1260_1266del | ENSP00000505363.1:p.Gln421HisfsTer? | |
| ENST00000294732.11:c.1260_1266del | ENSP00000294732.7:p.Gln421HisfsTer? | |
| ENST00000367409.8:c.1260_1266del | ENSP00000356379.4:p.Gln421HisfsTer? | |
| ENST00000612785.1:c.561+699_561+705del | ENSP00000479244.1:n.561+699_561+705del | |
| NM_001206846.1:c.1260_1266del | NP_001193775.1:p.Gln421HisfsTer? | |
| NM_018136.4:c.1260_1266del | NP_060606.3:p.Gln421HisfsTer? | |
| NM_018136.5:c.1260_1266del MANE Select | NP_060606.3:p.Gln421HisfsTer? | |
| NM_001206846.2:c.1260_1266del | NP_001193775.1:p.Gln421HisfsTer? |