Linked Data
dbSNP Id:
rs200304972
gnomAD v2:
22-42522619-AG-A
gnomAD v3:
22-42126617-AG-A
gnomAD v4:
22-42126617-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126619del , CM000684.2:g.42126619del | GRCh38 |
| NC_000022.10:g.42522621del , CM000684.1:g.42522621del | GRCh37 |
| NC_000022.9:g.40852565del | NCBI36 |
| NG_008376.3:g.8374del | |
| NG_008376.4:g.9193del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.1248del | ENSP00000353241.6:n.1248del | |
| ENST00000645361.2:c.1450del MANE Select | ENSP00000496150.1:p.Leu484TrpfsTer2 | |
| ENST00000359033.4:c.1297del | ENSP00000351927.4:p.Leu433TrpfsTer2 | |
| ENST00000360124.9:c.1068del | ENSP00000353241.5:n.1068del | |
| ENST00000360608.9:c.1450del | ENSP00000353820.5:p.Leu484TrpfsTer2 | |
| ENST00000389970.7:c.1441del | ENSP00000374620.4:p.Leu481TrpfsTer2 | |
| ENST00000488442.1:n.2174del | ||
| NM_000106.5:c.1450del | NP_000097.3:p.Leu484TrpfsTer2 | |
| NM_001025161.2:c.1297del | NP_001020332.2:p.Leu433TrpfsTer2 | |
| XM_011529966.1:c.1450del | XP_011528268.1:p.Leu484TrpfsTer? | |
| XM_011529967.1:c.1450del | XP_011528269.1:p.Leu484TrpfsTer? | |
| XM_011529968.1:c.1450del | XP_011528270.1:p.Leu484TrpfsTer11 | |
| XM_011529969.1:c.1306del | XP_011528271.1:p.Leu436TrpfsTer? | |
| XM_011529970.1:c.1297del | XP_011528272.1:p.Leu433TrpfsTer? | |
| XM_011529971.1:c.1306del | XP_011528273.1:p.Leu436TrpfsTer2 | |
| NM_000106.6:c.1450del MANE Select | NP_000097.3:p.Leu484TrpfsTer2 | |
| NM_001025161.3:c.1297del | NP_001020332.2:p.Leu433TrpfsTer2 |