ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48791330del , CM000685.2:g.48791330del | GRCh38 |
| NC_000023.10:g.48649737del , CM000685.1:g.48649737del | GRCh37 |
| NC_000023.9:g.48534681del | NCBI36 |
| NG_008846.2:g.9757del , LRG_559:g.9757del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651144.2:c.-29-514del | ENSP00000498550.1:n.-29-514del | |
| ENST00000696450.1:c.220+1del | ||
| ENST00000696451.1:c.-29-514del | ENSP00000512638.1:n.-29-514del | |
| ENST00000696452.1:c.-29-514del | ENSP00000512639.1:n.-29-514del | |
| ENST00000376670.9:c.220+1del | ||
| ENST00000651144.1:c.-29-514del | ENSP00000498550.1:n.-29-514del | |
| ENST00000376665.4:c.220+1del | ||
| ENST00000376670.7:c.220+1del | ||
| NM_002049.3:c.220+1del , LRG_559t1:c.220+1del | ||
| XM_011543897.1:c.220+1del | ||
| XM_011543898.1:c.-29-514del | XP_011542200.1:n.-29-514del | |
| XM_011543897.2:c.220+1del | ||
| XM_011543898.2:c.-29-514del | XP_011542200.1:n.-29-514del | |
| XM_024452363.1:c.-29-514del | XP_024308131.1:n.-29-514del | |
| NM_002049.4:c.220+1del |