Linked Data
ClinVar Variation Id:
205944
dbSNP Id:
rs758334927
ExAC:
20:62038511 GAGA / G
gnomAD v2:
20-62038511-GAGA-G
gnomAD v4:
20-63407158-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407161_63407163del , CM000682.2:g.63407161_63407163del | GRCh38 |
| NC_000020.10:g.62038514_62038516del , CM000682.1:g.62038514_62038516del | GRCh37 |
| NC_000020.9:g.61508958_61508960del | NCBI36 |
| NG_009004.1:g.70480_70482del | |
| NG_009004.2:g.70480_70482del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2156_2158del | ENSP00000516702.1:p.Phe719del | |
| ENST00000359125.7:c.2102_2104del MANE Select | ENSP00000352035.2:p.Phe701del | |
| ENST00000637193.1:c.1499_1501del | ENSP00000490734.1:p.Phe500del | |
| ENST00000344462.8:c.2009_2011del | ENSP00000339611.4:p.Phe670del | |
| ENST00000357249.6:c.1670_1672del | ENSP00000349789.3:p.Phe557del | |
| ENST00000359125.6:c.2102_2104del | ENSP00000352035.2:p.Phe701del | |
| ENST00000360480.7:c.2018_2020del | ENSP00000353668.3:p.Phe673del | |
| ENST00000370224.5:c.2126_2128del | ENSP00000359244.2:p.Phe709del | |
| ENST00000625514.2:c.2090_2092del | ENSP00000486040.1:p.Phe697del | |
| ENST00000626839.2:c.2048_2050del | ENSP00000486706.1:p.Phe683del | |
| ENST00000629241.2:c.2018_2020del | ENSP00000487142.1:p.Phe673del | |
| ENST00000629676.2:c.1679+6289_1679+6291del | ENSP00000486194.1:n.1679+6289_1679+6291del | |
| NM_004518.4:c.2018_2020del | NP_004509.2:p.Phe673del | |
| NM_172106.1:c.2048_2050del | NP_742104.1:p.Phe683del | |
| NM_172107.2:c.2102_2104del | NP_742105.1:p.Phe701del | |
| NM_172108.3:c.2009_2011del | NP_742106.1:p.Phe670del | |
| XM_006723787.1:c.2144_2146del | XP_006723850.1:p.Phe715del | |
| XM_011528807.1:c.2210_2212del | XP_011527109.1:p.Phe737del | |
| XM_011528808.1:c.2207_2209del | XP_011527110.1:p.Phe736del | |
| XM_011528809.1:c.2180_2182del | XP_011527111.1:p.Phe727del | |
| XM_011528810.1:c.2156_2158del | XP_011527112.1:p.Phe719del | |
| XM_011528811.1:c.2126_2128del | XP_011527113.1:p.Phe709del | |
| XM_011528812.1:c.2099_2101del | XP_011527114.1:p.Phe700del | |
| XM_011528813.1:c.2084_2086del | XP_011527115.1:p.Phe695del | |
| XM_011528814.1:c.1691_1693del | XP_011527116.1:p.Phe564del | |
| NM_004518.5:c.2018_2020del | NP_004509.2:p.Phe673del | |
| NM_172106.2:c.2048_2050del | NP_742104.1:p.Phe683del | |
| NM_172107.3:c.2102_2104del | NP_742105.1:p.Phe701del | |
| NM_172108.4:c.2009_2011del | NP_742106.1:p.Phe670del | |
| XM_011528810.2:c.2156_2158del | XP_011527112.1:p.Phe719del | |
| XM_011528811.2:c.2126_2128del | XP_011527113.1:p.Phe709del | |
| XM_017027841.2:c.2153_2155del | XP_016883330.1:p.Phe718del | |
| XM_017027842.2:c.2090_2092del | XP_016883331.1:p.Phe697del | |
| XM_017027843.1:c.2087_2089del | XP_016883332.1:p.Phe696del | |
| XM_017027844.2:c.2045_2047del | XP_016883333.1:p.Phe682del | |
| XM_017027845.1:c.1118_1120del | XP_016883334.1:p.Phe373del | |
| NM_004518.6:c.2018_2020del | NP_004509.2:p.Phe673del | |
| NM_172106.3:c.2048_2050del | NP_742104.1:p.Phe683del | |
| NM_172107.4:c.2102_2104del MANE Select | NP_742105.1:p.Phe701del | |
| NM_172108.5:c.2009_2011del | NP_742106.1:p.Phe670del | |
| NM_001382235.1:c.2156_2158del | NP_001369164.1:p.Phe719del |