Linked Data
ClinVar Variation Id:
210353
ClinVar RCV Id:
RCV000194147
dbSNP Id:
rs797045313
gnomAD v4:
1-197124103-AACTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197124106_197124109del , CM000663.2:g.197124106_197124109del | GRCh38 |
| NC_000001.10:g.197093236_197093239del , CM000663.1:g.197093236_197093239del | GRCh37 |
| NC_000001.9:g.195359859_195359862del | NCBI36 |
| NG_015867.1:g.27588_27591del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.1432+3_1432+6del | ||
| ENST00000367409.9:c.3390+3_3390+6del MANE Select | ENSP00000356379.4:n.3390+3_3390+6del | |
| ENST00000680112.1:n.1446+3_1446+6del | ||
| ENST00000680265.1:c.3390+3_3390+6del | ENSP00000505384.1:n.3390+3_3390+6del | |
| ENST00000680710.1:c.3390+3_3390+6del | ENSP00000506676.1:n.3390+3_3390+6del | |
| ENST00000681879.1:c.3390+3_3390+6del | ENSP00000505363.1:n.3390+3_3390+6del | |
| ENST00000294732.11:c.3390+3_3390+6del | ENSP00000294732.7:n.3390+3_3390+6del | |
| ENST00000367408.5:c.1140+3_1140+6del | ENSP00000356378.1:n.1140+3_1140+6del | |
| ENST00000367409.8:c.3390+3_3390+6del | ENSP00000356379.4:n.3390+3_3390+6del | |
| ENST00000612785.1:c.561+19584_561+19587del | ENSP00000479244.1:n.561+19584_561+19587de... | |
| NM_001206846.1:c.3390+3_3390+6del | NP_001193775.1:n.3390+3_3390+6del | |
| NM_018136.4:c.3390+3_3390+6del | NP_060606.3:n.3390+3_3390+6del | |
| NM_018136.5:c.3390+3_3390+6del MANE Select | NP_060606.3:n.3390+3_3390+6del | |
| NM_001206846.2:c.3390+3_3390+6del | NP_001193775.1:n.3390+3_3390+6del |