Linked Data
dbSNP Id:
rs1332837430
gnomAD v3:
2-189098691-ACAAGAGTAC-A
gnomAD v4:
2-189098691-ACAAGAGTAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189098697_189098705del , CM000664.2:g.189098697_189098705del | GRCh38 |
| NC_000002.11:g.189963423_189963431del , CM000664.1:g.189963423_189963431del | GRCh37 |
| NC_000002.10:g.189671668_189671676del | NCBI36 |
| NG_011799.1:g.86180_86188del | |
| NG_011799.2:g.86180_86188del | |
| NG_011799.3:g.131602_131610del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.402+27_402+35del MANE Select | ENSP00000364000.3:n.402+27_402+35del | |
| ENST00000649966.1:c.264+27_264+35del | ENSP00000496785.1:n.264+27_264+35del | |
| ENST00000374866.7:c.402+27_402+35del | ENSP00000364000.3:n.402+27_402+35del | |
| ENST00000618828.1:c.-229+27_-229+35del | ENSP00000482184.1:n.-229+27_-229+35del | |
| NM_000393.3:c.402+27_402+35del | NP_000384.2:n.402+27_402+35del | |
| XM_011510573.1:c.264+27_264+35del | XP_011508875.1:n.264+27_264+35del | |
| NM_000393.4:c.402+27_402+35del | NP_000384.2:n.402+27_402+35del | |
| XM_011510573.3:c.264+27_264+35del | XP_011508875.1:n.264+27_264+35del | |
| NM_000393.5:c.402+27_402+35del MANE Select | NP_000384.2:n.402+27_402+35del |