Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100210694del , CM000663.2:g.100210694del | GRCh38 |
| NC_000001.10:g.100676250del , CM000663.1:g.100676250del | GRCh37 |
| NC_000001.9:g.100448838del | NCBI36 |
| NG_011852.2:g.44161del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.1143+1del | ||
| ENST00000681780.1:c.474+1del | ||
| ENST00000370131.3:c.1371del | ENSP00000359150.3:n.1371del | |
| ENST00000370132.8:c.1017+1del | ||
| NM_001918.3:c.1017+1del | ||
| XM_005270545.2:c.474+1del | ||
| XM_005270546.2:c.474+1del | ||
| XM_005270545.4:c.474+1del | ||
| XM_017000468.2:c.474+1del | ||
| XM_017000469.2:c.474+1del | ||
| NM_001918.4:c.1017+1del | ||
| NM_001918.5:c.1017+1del | ||
| NM_001399969.1:c.474+1del | ||
| NM_001399972.1:c.474+1del | ||
| NR_174363.1:n.849+1del | ||
| NR_174364.1:n.1031+1del | ||
| NR_174365.1:n.814+1del | ||
| NR_174366.1:n.1116+1del |