Linked Data
dbSNP Id:
rs1569022718
gnomAD v2:
22-42524334-CGG-C
gnomAD v4:
22-42128332-CGG-C
MyVariant Identifiers:
chr22:g.42524335_42524336del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128335_42128336del , CM000684.2:g.42128335_42128336del | GRCh38 |
| NC_000022.10:g.42524337_42524338del , CM000684.1:g.42524337_42524338del | GRCh37 |
| NC_000022.9:g.40854281_40854282del | NCBI36 |
| NG_008376.3:g.6658_6659del | |
| NG_008376.4:g.7477_7478del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.530_531del | ENSP00000353241.6:p.Pro177ArgfsTer25 | |
| ENST00000645361.2:c.683_684del MANE Select | ENSP00000496150.1:p.Pro228ArgfsTer25 | |
| ENST00000359033.4:c.530_531del | ENSP00000351927.4:p.Pro177ArgfsTer25 | |
| ENST00000360124.9:c.350_351del | ENSP00000353241.5:p.Pro117ArgfsTer25 | |
| ENST00000360608.9:c.683_684del | ENSP00000353820.5:p.Pro228ArgfsTer25 | |
| ENST00000389970.7:c.617_618del | ENSP00000374620.4:p.Pro206ArgfsTer25 | |
| ENST00000488442.1:n.1407_1408del | ||
| NM_000106.5:c.683_684del | NP_000097.3:p.Pro228ArgfsTer25 | |
| NM_001025161.2:c.530_531del | NP_001020332.2:p.Pro177ArgfsTer25 | |
| XM_011529966.1:c.683_684del | XP_011528268.1:p.Pro228ArgfsTer25 | |
| XM_011529967.1:c.683_684del | XP_011528269.1:p.Pro228ArgfsTer25 | |
| XM_011529968.1:c.683_684del | XP_011528270.1:p.Pro228ArgfsTer25 | |
| XM_011529969.1:c.539_540del | XP_011528271.1:p.Pro180ArgfsTer25 | |
| XM_011529970.1:c.530_531del | XP_011528272.1:p.Pro177ArgfsTer25 | |
| XM_011529971.1:c.539_540del | XP_011528273.1:p.Pro180ArgfsTer25 | |
| XM_011529972.1:c.683_684del | XP_011528274.1:p.Pro228ArgfsTer25 | |
| NM_000106.6:c.683_684del MANE Select | NP_000097.3:p.Pro228ArgfsTer25 | |
| NM_001025161.3:c.530_531del | NP_001020332.2:p.Pro177ArgfsTer25 |