Linked Data
dbSNP Id:
rs1193390510
gnomAD v4:
22-42127947-TC-T
MyVariant Identifiers:
chr22:g.42127948del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127948del , CM000684.2:g.42127948del | GRCh38 |
| NC_000022.10:g.42523950del , CM000684.1:g.42523950del | GRCh37 |
| NC_000022.9:g.40853894del | NCBI36 |
| NG_008376.3:g.7044del | |
| NG_008376.4:g.7863del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.691-14del | ENSP00000353241.6:n.691-14del | |
| ENST00000645361.2:c.879del MANE Select | ENSP00000496150.1:p.Asn294ThrfsTer4 | |
| ENST00000359033.4:c.726del | ENSP00000351927.4:p.Asn243ThrfsTer4 | |
| ENST00000360124.9:c.511-14del | ENSP00000353241.5:n.511-14del | |
| ENST00000360608.9:c.879del | ENSP00000353820.5:p.Asn294ThrfsTer4 | |
| ENST00000389970.7:c.813del | ENSP00000374620.4:p.Asn272ThrfsTer4 | |
| ENST00000488442.1:n.1603del | ||
| NM_000106.5:c.879del | NP_000097.3:p.Asn294ThrfsTer4 | |
| NM_001025161.2:c.726del | NP_001020332.2:p.Asn243ThrfsTer4 | |
| XM_011529966.1:c.879del | XP_011528268.1:p.Asn294ThrfsTer4 | |
| XM_011529967.1:c.879del | XP_011528269.1:p.Asn294ThrfsTer4 | |
| XM_011529968.1:c.879del | XP_011528270.1:p.Asn294ThrfsTer4 | |
| XM_011529969.1:c.735del | XP_011528271.1:p.Asn246ThrfsTer4 | |
| XM_011529970.1:c.726del | XP_011528272.1:p.Asn243ThrfsTer4 | |
| XM_011529971.1:c.735del | XP_011528273.1:p.Asn246ThrfsTer4 | |
| XM_011529972.1:c.843+226del | XP_011528274.1:n.843+226del | |
| NM_000106.6:c.879del MANE Select | NP_000097.3:p.Asn294ThrfsTer4 | |
| NM_001025161.3:c.726del | NP_001020332.2:p.Asn243ThrfsTer4 |