ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2884437_2884824del , CM000673.2:g.2884437_2884824del | GRCh38 |
| NC_000011.9:g.2905667_2906054del , CM000673.1:g.2905667_2906054del | GRCh37 |
| NC_000011.8:g.2862243_2862630del | NCBI36 |
| NG_008022.1:g.5948_6335del , LRG_533:g.5948_6335del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681969.1:n.143-684_143-297del | ||
| ENST00000380725.2:c.255+384_256-297del | ENSP00000370101.1:n.255+384_256-297del | |
| ENST00000414822.8:c.672_820+239del | ||
| ENST00000430149.3:c.672_820+239del | ||
| ENST00000440480.8:c.639_787+239del | ||
| ENST00000647251.1:c.255+384_256-297del | ENSP00000496631.1:n.255+384_256-297del | |
| ENST00000380725.1:c.255+384_256-297del | ENSP00000370101.1:n.255+384_256-297del | |
| ENST00000414822.7:c.672_820+239del | ||
| ENST00000430149.2:c.672_820+239del | ||
| ENST00000440480.6:c.639_787+239del | ||
| NM_000076.2:c.672_820+239del , LRG_533t1:c.672_820+239del | ||
| NM_001122630.1:c.639_787+239del | ||
| NM_001122631.1:c.639_787+239del | ||
| XM_005252732.3:c.255+384_256-297del | XP_005252789.1:n.255+384_256-297del | |
| NM_001362474.1:c.672_820+239del | ||
| NM_001362475.1:c.255+384_256-297del | NP_001349404.1:n.255+384_256-297del | |
| NM_001122630.2:c.639_787+239del | ||
| NM_001122631.2:c.639_787+239del | ||
| NM_001362474.2:c.672_820+239del | ||
| NM_001362475.2:c.255+384_256-297del | NP_001349404.1:n.255+384_256-297del |