Linked Data
dbSNP Id:
rs943027536
gnomAD v2:
4-72650612-TA-T
gnomAD v3:
4-71784895-TA-T
gnomAD v4:
4-71784895-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71784896del , CM000666.2:g.71784896del | GRCh38 |
| NC_000004.11:g.72650613del , CM000666.1:g.72650613del | GRCh37 |
| NC_000004.10:g.72869477del | NCBI36 |
| NG_012837.2:g.25625del | |
| NG_012837.3:g.25625del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504199.5:c.22-842del | ENSP00000421725.1:n.22-842del | |
| ENST00000506245.1:c.-36-842del | ENSP00000426718.1:n.-36-842del | |
| NM_001204306.1:c.-36-842del | NP_001191235.1:n.-36-842del | |
| NM_001204307.1:c.22-842del | NP_001191236.1:n.22-842del |