Linked Data
dbSNP Id:
rs1568927865
gnomAD v2:
21-47534208-ATG-A
gnomAD v3:
21-46114294-ATG-A
gnomAD v4:
21-46114294-ATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46114295_46114296del , CM000683.2:g.46114295_46114296del | GRCh38 |
| NC_000021.8:g.47534209_47534210del , CM000683.1:g.47534209_47534210del | GRCh37 |
| NC_000021.7:g.46358637_46358638del | NCBI36 |
| NG_008675.1:g.21177_21178del , LRG_476:g.21177_21178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.801+222_801+223del MANE Plus Clinical | ENSP00000380870.1:n.801+222_801+223del | |
| ENST00000300527.9:c.801+222_801+223del MANE Select | ENSP00000300527.4:n.801+222_801+223del | |
| ENST00000409416.6:c.801+222_801+223del | ENSP00000387115.1:n.801+222_801+223del | |
| ENST00000300527.8:c.801+222_801+223del | ENSP00000300527.4:n.801+222_801+223del | |
| ENST00000310645.9:c.801+222_801+223del | ENSP00000312529.5:n.801+222_801+223del | |
| ENST00000397763.5:c.801+222_801+223del | ENSP00000380870.1:n.801+222_801+223del | |
| ENST00000409416.5:c.801+222_801+223del | ENSP00000387115.1:n.801+222_801+223del | |
| ENST00000485591.1:n.457+222_457+223del | ||
| NM_001849.3:c.801+222_801+223del , LRG_476t1:c.801+222_801+223del | NP_001840.3:n.801+222_801+223del | |
| NM_058174.2:c.801+222_801+223del | NP_478054.2:n.801+222_801+223del | |
| NM_058175.2:c.801+222_801+223del | NP_478055.2:n.801+222_801+223del | |
| XM_011529451.1:c.801+222_801+223del | XP_011527753.1:n.801+222_801+223del | |
| XM_011529452.1:c.801+222_801+223del | XP_011527754.1:n.801+222_801+223del | |
| XR_937438.1:n.924+222_924+223del | ||
| XR_937439.1:n.924+222_924+223del | ||
| XR_937438.2:n.931+222_931+223del | ||
| XR_937439.2:n.931+222_931+223del | ||
| NM_001849.4:c.801+222_801+223del MANE Select | NP_001840.3:n.801+222_801+223del | |
| NM_058174.3:c.801+222_801+223del MANE Plus Clinical | NP_478054.2:n.801+222_801+223del | |
| NM_058175.3:c.801+222_801+223del | NP_478055.2:n.801+222_801+223del |