Linked Data
dbSNP Id:
rs775819473
ExAC:
20:62078214 TCAGA / T
gnomAD v2:
20-62078214-TCAGA-T
gnomAD v3:
20-63446861-TCAGA-T
gnomAD v4:
20-63446861-TCAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63446865_63446868del , CM000682.2:g.63446865_63446868del | GRCh38 |
| NC_000020.10:g.62078218_62078221del , CM000682.1:g.62078218_62078221del | GRCh37 |
| NC_000020.9:g.61548662_61548665del | NCBI36 |
| NG_009004.1:g.30776_30779del | |
| NG_009004.2:g.30776_30779del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.297-28_297-25del | ENSP00000516702.1:n.297-28_297-25del | |
| ENST00000344425.8:c.297-28_297-25del | ENSP00000345523.5:n.297-28_297-25del | |
| ENST00000359125.7:c.297-28_297-25del MANE Select | ENSP00000352035.2:n.297-28_297-25del | |
| ENST00000636042.1:n.77-28_77-25del | ||
| ENST00000636065.1:n.83-28_83-25del | ||
| ENST00000636255.1:n.35-28_35-25del | ||
| ENST00000636591.1:n.73-28_73-25del | ||
| ENST00000636623.1:n.58-28_58-25del | ||
| ENST00000636959.1:n.89-28_89-25del | ||
| ENST00000637133.1:n.70-28_70-25del | ||
| ENST00000637193.1:c.-223-28_-223-25del | ENSP00000490734.1:n.-223-28_-223-25del | |
| ENST00000637772.1:n.30-28_30-25del | ||
| ENST00000637803.1:n.95-28_95-25del | ||
| ENST00000344425.7:c.297-28_297-25del | ENSP00000345523.5:n.297-28_297-25del | |
| ENST00000344462.8:c.297-28_297-25del | ENSP00000339611.4:n.297-28_297-25del | |
| ENST00000359125.6:c.297-28_297-25del | ENSP00000352035.2:n.297-28_297-25del | |
| ENST00000360480.7:c.297-28_297-25del | ENSP00000353668.3:n.297-28_297-25del | |
| ENST00000370221.3:n.423-28_423-25del | ||
| ENST00000370224.5:c.297-28_297-25del | ENSP00000359244.2:n.297-28_297-25del | |
| ENST00000625514.2:c.297-28_297-25del | ENSP00000486040.1:n.297-28_297-25del | |
| ENST00000626313.1:n.139-28_139-25del | ||
| ENST00000626839.2:c.297-28_297-25del | ENSP00000486706.1:n.297-28_297-25del | |
| ENST00000629241.2:c.297-28_297-25del | ENSP00000487142.1:n.297-28_297-25del | |
| ENST00000629676.2:c.297-28_297-25del | ENSP00000486194.1:n.297-28_297-25del | |
| NM_004518.4:c.297-28_297-25del | NP_004509.2:n.297-28_297-25del | |
| NM_172106.1:c.297-28_297-25del | NP_742104.1:n.297-28_297-25del | |
| NM_172107.2:c.297-28_297-25del | NP_742105.1:n.297-28_297-25del | |
| NM_172108.3:c.297-28_297-25del | NP_742106.1:n.297-28_297-25del | |
| NM_172109.1:c.297-28_297-25del | NP_742107.1:n.297-28_297-25del | |
| XM_006723787.1:c.297-28_297-25del | XP_006723850.1:n.297-28_297-25del | |
| XM_011528807.1:c.297-28_297-25del | XP_011527109.1:n.297-28_297-25del | |
| XM_011528808.1:c.297-28_297-25del | XP_011527110.1:n.297-28_297-25del | |
| XM_011528809.1:c.297-28_297-25del | XP_011527111.1:n.297-28_297-25del | |
| XM_011528810.1:c.297-28_297-25del | XP_011527112.1:n.297-28_297-25del | |
| XM_011528811.1:c.297-28_297-25del | XP_011527113.1:n.297-28_297-25del | |
| XM_011528812.1:c.297-28_297-25del | XP_011527114.1:n.297-28_297-25del | |
| XM_011528813.1:c.297-28_297-25del | XP_011527115.1:n.297-28_297-25del | |
| XM_011528815.1:c.297-28_297-25del | XP_011527117.1:n.297-28_297-25del | |
| XM_011528816.1:c.297-28_297-25del | XP_011527118.1:n.297-28_297-25del | |
| NM_004518.5:c.297-28_297-25del | NP_004509.2:n.297-28_297-25del | |
| NM_172106.2:c.297-28_297-25del | NP_742104.1:n.297-28_297-25del | |
| NM_172107.3:c.297-28_297-25del | NP_742105.1:n.297-28_297-25del | |
| NM_172108.4:c.297-28_297-25del | NP_742106.1:n.297-28_297-25del | |
| NM_172109.2:c.297-28_297-25del | NP_742107.1:n.297-28_297-25del | |
| XM_011528810.2:c.297-28_297-25del | XP_011527112.1:n.297-28_297-25del | |
| XM_011528811.2:c.297-28_297-25del | XP_011527113.1:n.297-28_297-25del | |
| XM_017027841.2:c.297-28_297-25del | XP_016883330.1:n.297-28_297-25del | |
| XM_017027842.2:c.297-28_297-25del | XP_016883331.1:n.297-28_297-25del | |
| XM_017027843.1:c.228-28_228-25del | XP_016883332.1:n.228-28_228-25del | |
| XM_017027844.2:c.297-28_297-25del | XP_016883333.1:n.297-28_297-25del | |
| NM_004518.6:c.297-28_297-25del | NP_004509.2:n.297-28_297-25del | |
| NM_172106.3:c.297-28_297-25del | NP_742104.1:n.297-28_297-25del | |
| NM_172107.4:c.297-28_297-25del MANE Select | NP_742105.1:n.297-28_297-25del | |
| NM_172108.5:c.297-28_297-25del | NP_742106.1:n.297-28_297-25del | |
| NM_172109.3:c.297-28_297-25del | NP_742107.1:n.297-28_297-25del | |
| NM_001382235.1:c.297-28_297-25del | NP_001369164.1:n.297-28_297-25del |