Linked Data
ClinVar Variation Id:
157813
ClinVar RCV Id:
RCV000145122
dbSNP Id:
rs587783239
gnomAD v2:
1-197091060-ATC-A
gnomAD v4:
1-197121930-ATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197121932_197121933del , CM000663.2:g.197121932_197121933del | GRCh38 |
| NC_000001.10:g.197091062_197091063del , CM000663.1:g.197091062_197091063del | GRCh37 |
| NC_000001.9:g.195357685_195357686del | NCBI36 |
| NG_015867.1:g.29763_29764del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.1895_1896del | ||
| ENST00000367409.9:c.3853_3854del MANE Select | ENSP00000356379.4:p.Asp1285SerfsTer? | |
| ENST00000680112.1:n.1909_1910del | ||
| ENST00000680265.1:c.3853_3854del | ENSP00000505384.1:p.Asp1285SerfsTer? | |
| ENST00000680710.1:c.3853_3854del | ENSP00000506676.1:p.Asp1285SerfsTer? | |
| ENST00000681879.1:c.3853_3854del | ENSP00000505363.1:p.Asp1285SerfsTer11 | |
| ENST00000294732.11:c.3853_3854del | ENSP00000294732.7:p.Asp1285SerfsTer? | |
| ENST00000367408.5:c.1603_1604del | ENSP00000356378.1:p.Asp535SerfsTer? | |
| ENST00000367409.8:c.3853_3854del | ENSP00000356379.4:p.Asp1285SerfsTer? | |
| ENST00000612785.1:c.562-19285_562-19284del | ENSP00000479244.1:n.562-19285_562-19284de... | |
| NM_001206846.1:c.3853_3854del | NP_001193775.1:p.Asp1285SerfsTer? | |
| NM_018136.4:c.3853_3854del | NP_060606.3:p.Asp1285SerfsTer? | |
| NM_018136.5:c.3853_3854del MANE Select | NP_060606.3:p.Asp1285SerfsTer? | |
| NM_001206846.2:c.3853_3854del | NP_001193775.1:p.Asp1285SerfsTer? |