Linked Data
dbSNP Id:
rs772373349
ExAC:
19:1399141 ACTG / A
gnomAD v2:
19-1399141-ACTG-A
gnomAD v3:
19-1399142-ACTG-A
gnomAD v4:
19-1399142-ACTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399143_1399145del , CM000681.2:g.1399143_1399145del | GRCh38 |
| NC_000019.9:g.1399142_1399144del , CM000681.1:g.1399142_1399144del | GRCh37 |
| NC_000019.8:g.1350142_1350144del | NCBI36 |
| NG_009785.1:g.7409_7411del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.442_444del MANE Select | ENSP00000252288.1:p.Gln148del | |
| ENST00000447102.8:c.442_444del | ENSP00000403536.2:p.Gln148del | |
| ENST00000591788.3:c.125_127del | ||
| ENST00000640164.1:n.275_277del | ||
| ENST00000640762.1:c.373_375del | ENSP00000492031.1:p.Gln125del | |
| ENST00000252288.6:c.442_444del | ENSP00000252288.1:p.Gln148del | |
| ENST00000447102.7:c.442_444del | ENSP00000403536.2:p.Gln148del | |
| ENST00000591788.2:c.127_129del | ENSP00000466341.2:p.Gln43del | |
| NM_000156.5:c.442_444del | NP_000147.1:p.Gln148del | |
| NM_138924.2:c.442_444del | NP_620279.1:p.Gln148del | |
| NM_000156.6:c.442_444del MANE Select | NP_000147.1:p.Gln148del | |
| NM_138924.3:c.442_444del | NP_620279.1:p.Gln148del |