Linked Data
dbSNP Id:
rs1364308195
gnomAD v2:
4-72650498-TA-T
gnomAD v3:
4-71784781-TA-T
gnomAD v4:
4-71784781-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71784782del , CM000666.2:g.71784782del | GRCh38 |
| NC_000004.11:g.72650499del , CM000666.1:g.72650499del | GRCh37 |
| NC_000004.10:g.72869363del | NCBI36 |
| NG_012837.2:g.25739del | |
| NG_012837.3:g.25739del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504199.5:c.22-728del | ENSP00000421725.1:n.22-728del | |
| ENST00000506245.1:c.-36-728del | ENSP00000426718.1:n.-36-728del | |
| NM_001204306.1:c.-36-728del | NP_001191235.1:n.-36-728del | |
| NM_001204307.1:c.22-728del | NP_001191236.1:n.22-728del |