Linked Data
dbSNP Id:
rs757897521
ExAC:
22:17566038 CCTG / C
gnomAD v2:
22-17566038-CCTG-C
gnomAD v4:
22-17085148-CCTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085154_17085156del , CM000684.2:g.17085154_17085156del | GRCh38 |
| NC_000022.10:g.17566044_17566046del , CM000684.1:g.17566044_17566046del | GRCh37 |
| NC_000022.9:g.15946044_15946046del | NCBI36 |
| NG_028257.1:g.5194_5196del , LRG_355:g.5194_5196del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612619.2:c.63_65del | ENSP00000479970.1:p.Leu22del | |
| ENST00000694948.1:n.161_163del | ||
| ENST00000694949.1:n.158_160del | ||
| ENST00000694950.1:c.143_145del | ||
| ENST00000319363.11:c.63_65del MANE Select | ENSP00000320936.6:p.Leu22del | |
| ENST00000319363.10:c.63_65del | ENSP00000320936.6:p.Leu22del | |
| ENST00000459971.1:n.98_100del | ||
| ENST00000477874.1:n.201_203del | ||
| ENST00000612619.1:c.63_65del | ENSP00000479970.1:p.Leu22del | |
| NM_001289905.1:c.63_65del | NP_001276834.1:p.Leu22del | |
| NM_014339.6:c.63_65del , LRG_355t1:c.63_65del | NP_055154.3:p.Leu22del | |
| NM_014339.7:c.63_65del MANE Select | NP_055154.3:p.Leu22del | |
| NM_001289905.2:c.63_65del | NP_001276834.1:p.Leu22del |