ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.143298667_143298670del , CM000667.2:g.143298667_143298670del | GRCh38 |
| NC_000005.9:g.142678232_142678235del , CM000667.1:g.142678232_142678235del | GRCh37 |
| NC_000005.8:g.142658425_142658428del | NCBI36 |
| NG_009062.1:g.141844_141847del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394464.7:c.1891_1892+2del | ||
| ENST00000652686.1:c.1798_1799+2del | ||
| ENST00000231509.7:c.1894_1895+2del | ||
| ENST00000343796.6:c.1891_1892+2del | ||
| ENST00000394464.6:c.1891_1892+2del | ||
| ENST00000394466.6:c.1894_1895+2del | ||
| ENST00000415690.6:c.1891_1892+2del | ||
| ENST00000424646.6:c.1813_1814+2del | ||
| ENST00000503201.1:c.1891_1892+2del | ||
| ENST00000504572.5:c.1894_1895+2del | ||
| NM_000176.2:c.1891_1892+2del | ||
| NM_001018074.1:c.1891_1892+2del | ||
| NM_001018075.1:c.1891_1892+2del | ||
| NM_001018076.1:c.1891_1892+2del | ||
| NM_001018077.1:c.1891_1892+2del | ||
| NM_001020825.1:c.1891_1892+2del | ||
| NM_001024094.1:c.1894_1895+2del | ||
| NM_001204258.1:c.1813_1814+2del | ||
| NM_001204259.1:c.1636_1637+2del | ||
| NM_001204260.1:c.1624_1625+2del | ||
| NM_001204261.1:c.1600_1601+2del | ||
| NM_001204262.1:c.946_947+2del | ||
| NM_001204263.1:c.901_902+2del | ||
| NM_001204264.1:c.886_887+2del | ||
| NM_001204265.1:c.1891_1892+2del | ||
| XM_005268419.2:c.1894_1895+2del | ||
| XM_005268420.3:c.1894_1895+2del | ||
| XM_005268422.2:c.1894_1895+2del | ||
| XM_005268423.2:c.1894_1895+2del | ||
| XM_011537637.1:c.700_701+2del | ||
| NR_157096.1:n.814_815+2del | ||
| XM_005268419.4:c.1894_1895+2del | ||
| XM_005268420.4:c.1894_1895+2del | ||
| XM_005268422.3:c.1894_1895+2del | ||
| XM_005268423.3:c.1894_1895+2del | ||
| XM_011537637.3:c.700_701+2del | ||
| XM_017009397.1:c.1891_1892+2del | ||
| XM_017009398.1:c.1891_1892+2del | ||
| NM_000176.3:c.1891_1892+2del | ||
| NM_001364180.1:c.1891_1892+2del | ||
| NM_001364181.1:c.1891_1892+2del | ||
| NM_001364182.1:c.1891_1892+2del | ||
| NM_001364183.1:c.1894_1895+2del | ||
| NM_001364184.1:c.1894_1895+2del | ||
| NM_001364185.1:c.1894_1895+2del | ||
| NM_001018076.2:c.1891_1892+2del | ||
| NM_001020825.2:c.1891_1892+2del | ||
| NM_001024094.2:c.1894_1895+2del | ||
| NM_001204258.2:c.1813_1814+2del | ||
| NM_001204259.2:c.1636_1637+2del | ||
| NM_001204260.2:c.1624_1625+2del | ||
| NM_001204261.2:c.1600_1601+2del | ||
| NM_001204262.2:c.946_947+2del | ||
| NM_001204263.2:c.901_902+2del | ||
| NM_001204264.2:c.886_887+2del | ||
| NM_001204265.2:c.1891_1892+2del | ||
| NM_001364180.2:c.1891_1892+2del | ||
| NM_001364181.2:c.1891_1892+2del | ||
| NM_001364183.2:c.1894_1895+2del | ||
| NM_001364184.2:c.1894_1895+2del | ||
| NR_157096.2:n.814_815+2del |