Linked Data
ClinVar Variation Id:
337493
ClinVar RCV Id:
RCV000272443
dbSNP Id:
rs371530522
gnomAD v2:
2-96918785-AT-A
gnomAD v3:
2-96253047-AT-A
gnomAD v4:
2-96253047-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96253054del , CM000664.2:g.96253054del | GRCh38 |
| NC_000002.11:g.96918792del , CM000664.1:g.96918792del | GRCh37 |
| NC_000002.10:g.96282519del | NCBI36 |
| NG_027695.1:g.17966del , LRG_528:g.17966del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*760del MANE Select | ENSP00000258439.3:n.*760del | |
| ENST00000258439.7:c.*760del | ENSP00000258439.2:n.*760del | |
| ENST00000432959.1:c.*760del | ENSP00000416660.1:n.*760del | |
| NM_001193304.2:c.*760del | NP_001180233.1:n.*760del | |
| NM_017849.3:c.*760del , LRG_528t1:c.*760del | NP_060319.1:n.*760del | |
| XM_017004450.1:c.*61del | XP_016859939.1:n.*61del | |
| XM_017004452.1:c.*760del | XP_016859941.1:n.*760del | |
| NM_001193304.3:c.*760del | NP_001180233.1:n.*760del | |
| NM_017849.4:c.*760del MANE Select | NP_060319.1:n.*760del |