ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459395_48459714del , CM000675.2:g.48459395_48459714del | GRCh38 |
| NC_000013.10:g.49033531_49033850del , CM000675.1:g.49033531_49033850del | GRCh37 |
| NC_000013.9:g.47931532_47931851del | NCBI36 |
| NG_009009.1:g.160649_160968del , LRG_517:g.160649_160968del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1961-293_1987del | ||
| ENST00000643064.1:c.194+77952_194+78271del | ||
| ENST00000650461.1:c.1961-293_1987del | ||
| ENST00000267163.4:c.1961-293_1987del | ||
| NM_000321.2:c.1961-293_1987del , LRG_517t1:c.1961-293_1987del | ||
| XM_011535171.1:c.1700-293_1726del | ||
| XM_011535171.2:c.1700-293_1726del | ||
| NM_000321.3:c.1961-293_1987del |