Linked Data
ClinVar Variation Id:
128053
ClinVar RCV Id:
RCV000115992
RCV000198820
RCV000212457
RCV000585980
RCV000779367
RCV001542702
RCV002254679
RCV002490782
RCV003149809
RCV003313937
dbSNP Id:
rs587780174
ExAC:
22:29091226 TA / T
gnomAD v2:
22-29091226-TA-T
gnomAD v3:
22-28695238-TA-T
gnomAD v4:
22-28695238-TA-T
MyVariant Identifiers:
chr22:g.29091227del (hg19)
chr22:g.28695240del (hg38)
chr22:g.28695239del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695240del , CM000684.2:g.28695240del | GRCh38 |
| NC_000022.10:g.29091228del , CM000684.1:g.29091228del | GRCh37 |
| NC_000022.9:g.27421228del | NCBI36 |
| NG_008150.1:g.51596del | |
| NG_008150.2:g.51628del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.1012del | ENSP00000518557.1:p.Ter338SerextTer? | |
| ENST00000402731.6:c.1062del | ENSP00000384835.2:p.Ser355ValfsTer15 | |
| ENST00000404276.6:c.1263del MANE Select | ENSP00000385747.1:p.Ser422ValfsTer15 | |
| ENST00000425190.7:c.600del | ENSP00000390244.2:p.Ser201ValfsTer15 | |
| ENST00000464581.6:c.603del | ENSP00000483777.2:p.Ser202ValfsTer15 | |
| ENST00000648295.1:n.815del | ||
| ENST00000649563.1:c.600del | ENSP00000496928.1:p.Ser201ValfsTer15 | |
| ENST00000650281.1:c.1263del | ENSP00000497000.1:p.Ser422ValfsTer15 | |
| ENST00000328354.10:c.1263del | ENSP00000329178.6:p.Ser422ValfsTer15 | |
| ENST00000348295.7:c.1176del | ENSP00000329012.5:p.Ser393ValfsTer15 | |
| ENST00000382580.6:c.1392del | ENSP00000372023.2:p.Ser465ValfsTer15 | |
| ENST00000402731.5:c.1176del | ENSP00000384835.1:p.Ser393ValfsTer15 | |
| ENST00000403642.5:c.990del | ENSP00000384919.1:p.Ser331ValfsTer15 | |
| ENST00000404276.5:c.1263del | ENSP00000385747.1:p.Ser422ValfsTer15 | |
| ENST00000405598.5:c.1263del | ENSP00000386087.1:p.Ser422ValfsTer15 | |
| ENST00000416671.5:c.*753del | ENSP00000402225.1:n.*753del | |
| ENST00000417588.5:c.1172del | ENSP00000412901.1:n.1172del | |
| ENST00000433728.5:c.1201del | ENSP00000404400.1:n.1201del | |
| ENST00000434810.5:c.491-30del | ||
| ENST00000448511.5:c.1153del | ENSP00000404567.1:n.1153del | |
| ENST00000456369.5:c.263+4599del | ||
| NM_001005735.1:c.1392del | NP_001005735.1:p.Ser465ValfsTer15 | |
| NM_001257387.1:c.600del | NP_001244316.1:p.Ser201ValfsTer15 | |
| NM_007194.3:c.1263del | NP_009125.1:p.Ser422ValfsTer15 | |
| NM_145862.2:c.1176del | NP_665861.1:p.Ser393ValfsTer15 | |
| XM_006724114.2:c.783del | XP_006724177.1:p.Ser262ValfsTer15 | |
| XM_006724116.2:c.720del | XP_006724179.2:p.Ser241ValfsTer15 | |
| XM_011529839.1:c.1422del | XP_011528141.1:p.Ser475ValfsTer15 | |
| XM_011529840.1:c.1335del | XP_011528142.1:p.Ser446ValfsTer15 | |
| XM_011529841.1:c.1191del | XP_011528143.1:p.Ser398ValfsTer15 | |
| XM_011529842.1:c.1092del | XP_011528144.1:p.Ser365ValfsTer15 | |
| XM_011529843.1:c.1062del | XP_011528145.1:p.Ser355ValfsTer15 | |
| XM_011529845.1:c.600del | XP_011528147.1:p.Ser201ValfsTer15 | |
| XR_937805.1:n.1422del | ||
| NM_001349956.1:c.1062del | NP_001336885.1:p.Ser355ValfsTer15 | |
| NM_007194.4:c.1263del MANE Select | NP_009125.1:p.Ser422ValfsTer15 | |
| XM_006724114.3:c.816del | XP_006724177.2:p.Ser273ValfsTer15 | |
| XM_011529839.2:c.1422del | XP_011528141.1:p.Ser475ValfsTer15 | |
| XM_011529840.3:c.1335del | XP_011528142.1:p.Ser446ValfsTer15 | |
| XM_011529842.2:c.1092del | XP_011528144.1:p.Ser365ValfsTer15 | |
| XM_011529845.2:c.600del | XP_011528147.1:p.Ser201ValfsTer15 | |
| XM_017028560.1:c.1386del | XP_016884049.1:p.Ser463ValfsTer15 | |
| XM_017028561.2:c.600del | XP_016884050.1:p.Ser201ValfsTer15 | |
| XM_024452148.1:c.1293del | XP_024307916.1:p.Ser432ValfsTer15 | |
| XM_024452149.1:c.1206del | XP_024307917.1:p.Ser403ValfsTer15 | |
| XR_937805.2:n.1433del | ||
| NM_001005735.2:c.1392del | NP_001005735.1:p.Ser465ValfsTer15 | |
| NM_001257387.2:c.600del | NP_001244316.1:p.Ser201ValfsTer15 | |
| NM_001349956.2:c.1062del | NP_001336885.1:p.Ser355ValfsTer15 |