ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130464113del , CM000671.2:g.130464113del | GRCh38 |
| NC_000009.11:g.133339500del , CM000671.1:g.133339500del | GRCh37 |
| NC_000009.10:g.132329321del | NCBI36 |
| NG_011542.1:g.24407del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.366del | ||
| ENST00000352480.9:c.366del | ||
| ENST00000372393.7:c.366del | ||
| ENST00000372394.5:c.366del | ||
| ENST00000422569.5:c.366del | ||
| ENST00000443588.1:c.364-2612del | ENSP00000397785.1:n.364-2612del | |
| ENST00000467695.5:n.75del | ||
| NM_000050.4:c.366del | ||
| NM_054012.3:c.366del | ||
| XM_005272200.2:c.366del | ||
| XM_011518705.1:c.480del | ||
| XM_005272200.3:c.366del | ||
| XM_011518705.2:c.480del | ||
| XM_017014729.1:c.462del | ||
| NM_054012.4:c.366del |