Linked Data
dbSNP Id:
rs761047151
gnomAD v2:
19-1399219-CGGTCAGGGCCGG-C
gnomAD v4:
19-1399220-CGGTCAGGGCCGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399222_1399233del , CM000681.2:g.1399222_1399233del | GRCh38 |
| NC_000019.9:g.1399221_1399232del , CM000681.1:g.1399221_1399232del | GRCh37 |
| NC_000019.8:g.1350221_1350232del | NCBI36 |
| NG_009785.1:g.7322_7333del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.392-37_392-26del MANE Select | ENSP00000252288.1:n.392-37_392-26del | |
| ENST00000447102.8:c.392-37_392-26del | ENSP00000403536.2:n.392-37_392-26del | |
| ENST00000591788.3:c.75-37_75-26del | ||
| ENST00000640164.1:n.225-37_225-26del | ||
| ENST00000640762.1:c.323-37_323-26del | ENSP00000492031.1:n.323-37_323-26del | |
| ENST00000252288.6:c.392-37_392-26del | ENSP00000252288.1:n.392-37_392-26del | |
| ENST00000447102.7:c.392-37_392-26del | ENSP00000403536.2:n.392-37_392-26del | |
| ENST00000591788.2:c.77-37_77-26del | ENSP00000466341.2:n.77-37_77-26del | |
| NM_000156.5:c.392-37_392-26del | NP_000147.1:n.392-37_392-26del | |
| NM_138924.2:c.392-37_392-26del | NP_620279.1:n.392-37_392-26del | |
| NM_000156.6:c.392-37_392-26del MANE Select | NP_000147.1:n.392-37_392-26del | |
| NM_138924.3:c.392-37_392-26del | NP_620279.1:n.392-37_392-26del |