Linked Data
dbSNP Id:
rs765534138
gnomAD v2:
17-15902989-AC-A
gnomAD v3:
17-15999675-AC-A
gnomAD v4:
17-15999675-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999681del , CM000679.2:g.15999681del | GRCh38 |
| NC_000017.10:g.15902995del , CM000679.1:g.15902995del | GRCh37 |
| NC_000017.9:g.15843720del | NCBI36 |
| NG_029806.1:g.5302del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399277.6:c.-82del (ZSWIM7) MANE Select | ENSP00000382218.1:n.-82del | |
| ENST00000261647.9:c.-168del (TTC19) | ENSP00000261647.5:n.-168del | |
| ENST00000399277.5:c.-82del (ZSWIM7) | ENSP00000382218.1:n.-82del | |
| ENST00000399280.6:n.19del (ZSWIM7) | ||
| ENST00000460252.5:c.-82del (ZSWIM7) | ENSP00000464463.1:n.-82del | |
| ENST00000460315.5:c.-82del (ZSWIM7) | ENSP00000462590.1:n.-82del | |
| ENST00000472495.5:c.-82del (ZSWIM7) | ENSP00000419138.1:n.-82del | |
| ENST00000491631.5:c.-82del (ZSWIM7) | ENSP00000462598.1:n.-82del | |
| ENST00000495825.6:n.8del (ZSWIM7) | ||
| ENST00000497719.5:n.38del (ZSWIM7) | ||
| ENST00000579955.1:c.-82del (ZSWIM7) | ENSP00000463444.1:n.-82del | |
| NM_001042697.1:c.-82del (ZSWIM7) | NP_001036162.1:n.-82del | |
| NM_001042698.1:c.-82del (ZSWIM7) | NP_001036163.1:n.-82del | |
| NM_001271420.1:c.-626del (TTC19) | NP_001258349.1:n.-626del | |
| NM_017775.3:c.-168del (TTC19) | NP_060245.3:n.-168del | |
| NM_001042697.2:c.-82del (ZSWIM7) MANE Select | NP_001036162.1:n.-82del | |
| NM_001042698.2:c.-82del (ZSWIM7) | NP_001036163.1:n.-82del |