Linked Data
ClinVar Variation Id:
341169
ClinVar RCV Id:
RCV000298291
dbSNP Id:
rs372162228
gnomAD v2:
22-30094108-AG-A
gnomAD v3:
22-29698119-AG-A
gnomAD v4:
22-29698119-AG-A
MyVariant Identifiers:
chr22:g.30094110del (hg19)
chr22:g.30094109del (hg19)
chr22:g.29698121del (hg38)
chr22:g.29698120del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29698121del , CM000684.2:g.29698121del | GRCh38 |
| NC_000022.10:g.30094110del , CM000684.1:g.30094110del | GRCh37 |
| NC_000022.9:g.28424110del | NCBI36 |
| NG_009057.1:g.99566del , LRG_511:g.99566del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338641.10:c.*3319del MANE Select | ENSP00000344666.5:n.*3319del | |
| ENST00000672896.1:c.*3379del | ENSP00000500117.1:n.*3379del | |
| ENST00000338641.8:c.*3319del | ENSP00000344666.4:n.*3319del | |
| ENST00000361452.8:c.*3379del | ENSP00000354897.4:n.*3379del | |
| ENST00000413209.6:c.*3319del | ENSP00000409921.2:n.*3319del | |
| NM_000268.3:c.*3319del , LRG_511t1:c.*3319del | NP_000259.1:n.*3319del | |
| NM_016418.5:c.*3379del , LRG_511t2:c.*3379del | NP_057502.2:n.*3379del | |
| NM_181828.2:c.*3379del | NP_861966.1:n.*3379del | |
| NM_181829.2:c.*3379del | NP_861967.1:n.*3379del | |
| NM_181830.2:c.*3379del | NP_861968.1:n.*3379del | |
| NM_181832.2:c.*3394del | NP_861970.1:n.*3394del | |
| NM_181833.2:c.*3319del | NP_861971.1:n.*3319del | |
| NR_156186.1:n.5666del | ||
| XM_017028810.1:c.*3379del | XP_016884299.1:n.*3379del | |
| NM_000268.4:c.*3319del MANE Select | NP_000259.1:n.*3319del | |
| NM_181828.3:c.*3379del | NP_861966.1:n.*3379del | |
| NM_181829.3:c.*3379del | NP_861967.1:n.*3379del | |
| NM_181830.3:c.*3379del | NP_861968.1:n.*3379del | |
| NM_181832.3:c.*3394del | NP_861970.1:n.*3394del | |
| NR_156186.2:n.5589del | ||
| NM_181833.3:c.*3319del | NP_861971.1:n.*3319del |