Linked Data
dbSNP Id:
rs1427725828
gnomAD v3:
2-214752834-AATCACCAAT-A
gnomAD v4:
2-214752834-AATCACCAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214752835_214752843del , CM000664.2:g.214752835_214752843del | GRCh38 |
| NC_000002.11:g.215617559_215617567del , CM000664.1:g.215617559_215617567del | GRCh37 |
| NC_000002.10:g.215325804_215325812del | NCBI36 |
| NG_012047.2:g.61862_61870del | |
| NG_012047.3:g.61869_61877del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1569-288_1569-280del MANE Select | ENSP00000260947.4:n.1569-288_1569-280del | |
| ENST00000421162.2:c.216-288_216-280del | ENSP00000392245.2:n.216-288_216-280del | |
| ENST00000613192.2:c.159-22335_159-22327del | ENSP00000483275.2:n.159-22335_159-22327del | |
| ENST00000613374.5:c.159-288_159-280del | ENSP00000484464.1:n.159-288_159-280del | |
| ENST00000613706.5:c.1161-288_1161-280del | ENSP00000484976.2:n.1161-288_1161-280del | |
| ENST00000617164.5:c.1512-288_1512-280del | ENSP00000480470.1:n.1512-288_1512-280del | |
| ENST00000619009.5:c.365-22335_365-22327del | ENSP00000482293.1:n.365-22335_365-22327del | |
| ENST00000650978.1:c.2944-288_2944-280del | ||
| ENST00000260947.8:c.1569-288_1569-280del | ENSP00000260947.4:n.1569-288_1569-280del | |
| ENST00000421162.1:c.216-288_216-280del | ENSP00000392245.1:n.216-288_216-280del | |
| ENST00000455743.5:c.*1189-288_*1189-280del | ENSP00000412186.1:n.*1189-288_*1189-280del | |
| ENST00000613192.1:c.74-22335_74-22327del | ENSP00000483275.1:n.74-22335_74-22327del | |
| ENST00000613374.4:c.159-288_159-280del | ENSP00000484464.1:n.159-288_159-280del | |
| ENST00000613706.4:c.216-288_216-280del | ENSP00000484976.1:n.216-288_216-280del | |
| ENST00000617164.4:c.1512-288_1512-280del | ENSP00000480470.1:n.1512-288_1512-280del | |
| ENST00000619009.4:c.365-22335_365-22327del | ENSP00000482293.1:n.365-22335_365-22327del | |
| ENST00000620057.4:c.*235-288_*235-280del | ENSP00000481988.1:n.*235-288_*235-280del | |
| NM_000465.3:c.1569-288_1569-280del | NP_000456.2:n.1569-288_1569-280del | |
| NM_001282543.1:c.1512-288_1512-280del | NP_001269472.1:n.1512-288_1512-280del | |
| NM_001282545.1:c.216-288_216-280del | NP_001269474.1:n.216-288_216-280del | |
| NM_001282548.1:c.159-288_159-280del | NP_001269477.1:n.159-288_159-280del | |
| NM_001282549.1:c.365-22335_365-22327del | NP_001269478.1:n.365-22335_365-22327del | |
| NR_104212.1:n.1562-288_1562-280del | ||
| NR_104215.1:n.1505-288_1505-280del | ||
| NR_104216.1:n.761-288_761-280del | ||
| XM_011511567.1:c.1515-288_1515-280del | XP_011509869.1:n.1515-288_1515-280del | |
| XM_011511568.1:c.1569-288_1569-280del | XP_011509870.1:n.1569-288_1569-280del | |
| XM_017004613.1:c.1668-288_1668-280del | XP_016860102.1:n.1668-288_1668-280del | |
| XM_017004614.1:c.1668-288_1668-280del | XP_016860103.1:n.1668-288_1668-280del | |
| XR_002959322.1:n.1759-288_1759-280del | ||
| NM_000465.4:c.1569-288_1569-280del MANE Select | NP_000456.2:n.1569-288_1569-280del | |
| NM_001282543.2:c.1512-288_1512-280del | NP_001269472.1:n.1512-288_1512-280del | |
| NM_001282545.2:c.216-288_216-280del | NP_001269474.1:n.216-288_216-280del | |
| NM_001282548.2:c.159-288_159-280del | NP_001269477.1:n.159-288_159-280del | |
| NM_001282549.2:c.365-22335_365-22327del | NP_001269478.1:n.365-22335_365-22327del | |
| NR_104212.2:n.1534-288_1534-280del | ||
| NR_104215.2:n.1477-288_1477-280del | ||
| NR_104216.2:n.733-288_733-280del |