ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36976388_36985660del , CM000667.2:g.36976388_36985660del | GRCh38 |
| NC_000005.9:g.36976490_36985762del , CM000667.1:g.36976490_36985762del | GRCh37 |
| NC_000005.8:g.37012247_37021519del | NCBI36 |
| NG_006987.1:g.104506_113778del | |
| NG_006987.2:g.104506_113778del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.1481_2480del | ||
| ENST00000652901.1:c.1481_2480del | ||
| ENST00000282516.12:c.1481_2480del | ||
| ENST00000448238.2:c.1481_2480del | ||
| ENST00000504430.5:n.1101_2100del | ||
| ENST00000621733.1:c.1-88190_1-78918del | ENSP00000480694.1:n.1-88190_1-78918del | |
| NM_015384.4:c.1481_2480del | ||
| NM_133433.3:c.1481_2480del | ||
| XM_005248280.2:c.1481_2480del | ||
| XM_005248282.3:c.737_1736del | ||
| XM_006714467.2:c.1481_2480del | ||
| XM_006714468.1:c.1481_2480del | ||
| XM_011514014.1:c.1481_2480del | ||
| XM_011514015.1:c.1481_2480del | ||
| XM_005248280.3:c.1481_2480del | ||
| XM_005248282.5:c.821_1820del | ||
| XM_006714468.2:c.1481_2480del | ||
| XM_017009329.1:c.1481_2480del | ||
| XM_017009331.1:c.1481_1495+9258del | ||
| NM_133433.4:c.1481_2480del | ||
| NM_015384.5:c.1481_2480del |