ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.35404561_35404696del , CM000676.2:g.35404561_35404696del | GRCh38 |
| NC_000014.8:g.35873767_35873902del , CM000676.1:g.35873767_35873902del | GRCh37 |
| NC_000014.7:g.34943518_34943653del | NCBI36 |
| NG_007571.1:g.5046_5181del , LRG_89:g.5046_5181del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553342.2:c.-49_87del | ||
| ENST00000557459.2:n.50_185del | ||
| ENST00000697957.1:n.57_192del | ||
| ENST00000697958.1:n.50_185del | ||
| ENST00000697959.1:n.57_192del | ||
| ENST00000697960.1:n.37_172del | ||
| ENST00000697961.1:c.-49_87del | ||
| ENST00000697966.1:n.9_105del | ||
| ENST00000216797.10:c.-49_87del | ||
| ENST00000216797.9:c.-49_87del | ||
| ENST00000554001.5:c.-49_87del | ||
| ENST00000555629.1:n.57_192del | ||
| ENST00000557100.5:n.8_143del | ||
| ENST00000557140.5:c.-49_87del | ||
| ENST00000557459.1:n.50_185del | ||
| NM_020529.2:c.-49_87del , LRG_89t1:c.-49_87del | ||
| NM_020529.3:c.-49_87del |