Linked Data
ClinVar Variation Id:
2859752
ClinVar RCV Id:
RCV003763363
dbSNP Id:
rs1210079871
gnomAD v2:
1-169524405-AC-A
gnomAD v3:
1-169555167-AC-A
gnomAD v4:
1-169555167-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555171del , CM000663.2:g.169555171del | GRCh38 |
| NC_000001.10:g.169524409del , CM000663.1:g.169524409del | GRCh37 |
| NC_000001.9:g.167791033del | NCBI36 |
| NG_011806.1:g.36364del , LRG_553:g.36364del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1118+14del MANE Select | ENSP00000356771.3:n.1118+14del | |
| ENST00000367796.3:c.1118+14del | ENSP00000356770.3:n.1118+14del | |
| ENST00000367797.7:c.1118+14del | ENSP00000356771.3:n.1118+14del | |
| NM_000130.4:c.1118+14del , LRG_553t1:c.1118+14del | NP_000121.2:n.1118+14del | |
| XM_017000660.2:c.707+14del | XP_016856149.1:n.707+14del | |
| NM_000130.5:c.1118+14del MANE Select | NP_000121.2:n.1118+14del |