Linked Data
dbSNP Id:
rs759718488
ExAC:
20:62076555 CCT / C
gnomAD v2:
20-62076555-CCT-C
gnomAD v4:
20-63445202-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63445203_63445204del , CM000682.2:g.63445203_63445204del | GRCh38 |
| NC_000020.10:g.62076556_62076557del , CM000682.1:g.62076556_62076557del | GRCh37 |
| NC_000020.9:g.61547000_61547001del | NCBI36 |
| NG_009004.1:g.32437_32438del | |
| NG_009004.2:g.32437_32438del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.514+34_514+35del | ENSP00000516702.1:n.514+34_514+35del | |
| ENST00000344425.8:c.514+34_514+35del | ENSP00000345523.5:n.514+34_514+35del | |
| ENST00000359125.7:c.514+34_514+35del MANE Select | ENSP00000352035.2:n.514+34_514+35del | |
| ENST00000636255.1:n.252+34_252+35del | ||
| ENST00000637193.1:c.-6+34_-6+35del | ENSP00000490734.1:n.-6+34_-6+35del | |
| ENST00000344425.7:c.514+34_514+35del | ENSP00000345523.5:n.514+34_514+35del | |
| ENST00000344462.8:c.514+34_514+35del | ENSP00000339611.4:n.514+34_514+35del | |
| ENST00000357249.6:c.172+34_172+35del | ENSP00000349789.3:n.172+34_172+35del | |
| ENST00000359125.6:c.514+34_514+35del | ENSP00000352035.2:n.514+34_514+35del | |
| ENST00000360480.7:c.514+34_514+35del | ENSP00000353668.3:n.514+34_514+35del | |
| ENST00000370221.3:n.640+34_640+35del | ||
| ENST00000370224.5:c.514+34_514+35del | ENSP00000359244.2:n.514+34_514+35del | |
| ENST00000625514.2:c.514+34_514+35del | ENSP00000486040.1:n.514+34_514+35del | |
| ENST00000626313.1:n.356+34_356+35del | ||
| ENST00000626839.2:c.514+34_514+35del | ENSP00000486706.1:n.514+34_514+35del | |
| ENST00000629241.2:c.514+34_514+35del | ENSP00000487142.1:n.514+34_514+35del | |
| ENST00000629676.2:c.514+34_514+35del | ENSP00000486194.1:n.514+34_514+35del | |
| ENST00000630274.2:n.339+34_339+35del | ||
| NM_004518.4:c.514+34_514+35del | NP_004509.2:n.514+34_514+35del | |
| NM_172106.1:c.514+34_514+35del | NP_742104.1:n.514+34_514+35del | |
| NM_172107.2:c.514+34_514+35del | NP_742105.1:n.514+34_514+35del | |
| NM_172108.3:c.514+34_514+35del | NP_742106.1:n.514+34_514+35del | |
| NM_172109.1:c.514+34_514+35del | NP_742107.1:n.514+34_514+35del | |
| XM_006723787.1:c.514+34_514+35del | XP_006723850.1:n.514+34_514+35del | |
| XM_011528807.1:c.514+34_514+35del | XP_011527109.1:n.514+34_514+35del | |
| XM_011528808.1:c.514+34_514+35del | XP_011527110.1:n.514+34_514+35del | |
| XM_011528809.1:c.514+34_514+35del | XP_011527111.1:n.514+34_514+35del | |
| XM_011528810.1:c.514+34_514+35del | XP_011527112.1:n.514+34_514+35del | |
| XM_011528811.1:c.514+34_514+35del | XP_011527113.1:n.514+34_514+35del | |
| XM_011528812.1:c.514+34_514+35del | XP_011527114.1:n.514+34_514+35del | |
| XM_011528813.1:c.514+34_514+35del | XP_011527115.1:n.514+34_514+35del | |
| XM_011528814.1:c.-6+34_-6+35del | XP_011527116.1:n.-6+34_-6+35del | |
| XM_011528815.1:c.514+34_514+35del | XP_011527117.1:n.514+34_514+35del | |
| XM_011528816.1:c.514+34_514+35del | XP_011527118.1:n.514+34_514+35del | |
| NM_004518.5:c.514+34_514+35del | NP_004509.2:n.514+34_514+35del | |
| NM_172106.2:c.514+34_514+35del | NP_742104.1:n.514+34_514+35del | |
| NM_172107.3:c.514+34_514+35del | NP_742105.1:n.514+34_514+35del | |
| NM_172108.4:c.514+34_514+35del | NP_742106.1:n.514+34_514+35del | |
| NM_172109.2:c.514+34_514+35del | NP_742107.1:n.514+34_514+35del | |
| XM_011528810.2:c.514+34_514+35del | XP_011527112.1:n.514+34_514+35del | |
| XM_011528811.2:c.514+34_514+35del | XP_011527113.1:n.514+34_514+35del | |
| XM_017027841.2:c.514+34_514+35del | XP_016883330.1:n.514+34_514+35del | |
| XM_017027842.2:c.514+34_514+35del | XP_016883331.1:n.514+34_514+35del | |
| XM_017027843.1:c.445+34_445+35del | XP_016883332.1:n.445+34_445+35del | |
| XM_017027844.2:c.514+34_514+35del | XP_016883333.1:n.514+34_514+35del | |
| NM_004518.6:c.514+34_514+35del | NP_004509.2:n.514+34_514+35del | |
| NM_172106.3:c.514+34_514+35del | NP_742104.1:n.514+34_514+35del | |
| NM_172107.4:c.514+34_514+35del MANE Select | NP_742105.1:n.514+34_514+35del | |
| NM_172108.5:c.514+34_514+35del | NP_742106.1:n.514+34_514+35del | |
| NM_172109.3:c.514+34_514+35del | NP_742107.1:n.514+34_514+35del | |
| NM_001382235.1:c.514+34_514+35del | NP_001369164.1:n.514+34_514+35del |