Linked Data
ClinVar Variation Id:
99824
dbSNP Id:
rs281865293
ExAC:
14:21819346 AAGG / A
gnomAD v2:
14-21819346-AAGG-A
gnomAD v3:
14-21351187-AAGG-A
gnomAD v4:
14-21351187-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21351190_21351192del , CM000676.2:g.21351190_21351192del | GRCh38 |
| NC_000014.8:g.21819349_21819351del , CM000676.1:g.21819349_21819351del | GRCh37 |
| NC_000014.7:g.20889189_20889191del | NCBI36 |
| NG_008933.1:g.68214_68216del | |
| NG_009932.1:g.38077_38079del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.3835_3837del MANE Select | ENSP00000382895.2:p.Glu1279del | |
| ENST00000382933.8:c.1813_1815del | ENSP00000372391.4:p.Glu605del | |
| ENST00000400017.6:c.3835_3837del | ENSP00000382895.2:p.Glu1279del | |
| ENST00000553927.1:n.2767_2769del | ||
| ENST00000555322.5:c.2262_2264del | ||
| ENST00000555489.5:c.2028_2030del | ENSP00000451044.1:n.2028_2030del | |
| ENST00000555587.5:c.2260_2262del | ENSP00000451262.1:p.Glu754del | |
| ENST00000556336.5:c.2806_2808del | ENSP00000450445.1:p.Glu936del | |
| ENST00000557771.5:c.3721_3723del | ENSP00000451219.1:p.Glu1241del | |
| NM_020366.3:c.3835_3837del | NP_065099.3:p.Glu1279del | |
| XM_005267879.2:c.2764_2766del | XP_005267936.1:p.Glu922del | |
| XM_005267880.2:c.2731_2733del | XP_005267937.1:p.Glu911del | |
| XM_005267881.2:c.2212_2214del | XP_005267938.1:p.Glu738del | |
| XM_011536978.1:c.2761_2763del | XP_011535280.1:p.Glu921del | |
| XM_011536979.1:c.2548_2550del | XP_011535281.1:p.Glu850del | |
| XM_011536980.1:c.2419_2421del | XP_011535282.1:p.Glu807del | |
| XM_011536981.1:c.2269_2271del | XP_011535283.1:p.Glu757del | |
| XM_011536982.1:c.1924_1926del | XP_011535284.1:p.Glu642del | |
| XM_011536983.1:c.3802_3804del | XP_011535285.1:p.Glu1268del | |
| XM_005267881.3:c.2212_2214del | XP_005267938.1:p.Glu738del | |
| XM_017021473.1:c.2266_2268del | XP_016876962.1:p.Glu756del | |
| XM_024449663.1:c.2758_2760del | XP_024305431.1:p.Glu920del | |
| XM_024449664.1:c.2263_2265del | XP_024305432.1:p.Glu755del | |
| XM_024449665.1:c.1921_1923del | XP_024305433.1:p.Glu641del | |
| XM_024449666.1:c.1918_1920del | XP_024305434.1:p.Glu640del | |
| NM_001377523.1:c.1813_1815del | NP_001364452.1:p.Glu605del | |
| NM_001377948.1:c.2761_2763del | NP_001364877.1:p.Glu921del | |
| NM_001377949.1:c.1921_1923del | NP_001364878.1:p.Glu641del | |
| NM_001377950.1:c.1813_1815del | NP_001364879.1:p.Glu605del | |
| NM_001377951.1:c.1318_1320del | NP_001364880.1:p.Glu440del | |
| NM_020366.4:c.3835_3837del MANE Select | NP_065099.3:p.Glu1279del |