Linked Data
dbSNP Id:
rs1488294353
gnomAD v2:
22-19906440-AG-A
gnomAD v3:
22-19918917-AG-A
gnomAD v4:
22-19918917-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19918919del , CM000684.2:g.19918919del | GRCh38 |
| NC_000022.10:g.19906442del , CM000684.1:g.19906442del | GRCh37 |
| NC_000022.9:g.18286442del | NCBI36 |
| NG_011835.1:g.27919del , LRG_417:g.27919del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.316del MANE Select | ENSP00000383365.1:p.Leu106Ter | |
| ENST00000334363.14:c.316del | ENSP00000334451.9:p.Leu106Ter | |
| ENST00000400518.5:c.226del | ENSP00000383362.1:p.Leu76Ter | |
| ENST00000400519.6:c.313del | ENSP00000383363.1:p.Leu105Ter | |
| ENST00000400521.6:c.316del | ENSP00000383365.1:p.Leu106Ter | |
| ENST00000400525.6:c.247del | ENSP00000383369.3:p.Leu83Ter | |
| ENST00000474308.5:c.259del | ENSP00000485665.1:p.Leu87Ter | |
| ENST00000491939.6:c.220del | ENSP00000485543.1:p.Leu74Ter | |
| ENST00000496729.2:n.321del | ||
| ENST00000542719.6:c.28del | ENSP00000485128.2:p.Leu10Ter | |
| NM_001282512.1:c.316del | NP_001269441.1:p.Leu106Ter | |
| NM_006440.4:c.316del | NP_006431.2:p.Leu106Ter | |
| NM_001282512.2:c.316del | NP_001269441.1:p.Leu106Ter | |
| NM_001352300.1:c.313del | NP_001339229.1:p.Leu105Ter | |
| NM_001352301.1:c.226del | NP_001339230.1:p.Leu76Ter | |
| NM_001352302.1:c.28del | NP_001339231.1:p.Leu10Ter | |
| NM_001352303.1:c.220del | NP_001339232.1:p.Leu74Ter | |
| NR_147957.1:n.448del | ||
| NM_006440.5:c.316del MANE Select | NP_006431.2:p.Leu106Ter | |
| NM_001282512.3:c.316del | NP_001269441.1:p.Leu106Ter | |
| NM_001352300.2:c.313del | NP_001339229.1:p.Leu105Ter | |
| NR_147957.2:n.274del | ||
| NM_001352301.2:c.226del | NP_001339230.1:p.Leu76Ter | |
| NM_001352302.2:c.28del | NP_001339231.1:p.Leu10Ter | |
| NM_001352303.2:c.220del | NP_001339232.1:p.Leu74Ter |