Linked Data
ClinVar Variation Id:
336755
ClinVar RCV Id:
RCV000370300
dbSNP Id:
rs886056221
gnomAD v2:
2-63348995-AAAAC-A
gnomAD v3:
2-63121860-AAAAC-A
gnomAD v4:
2-63121860-AAAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63121866_63121869del , CM000664.2:g.63121866_63121869del | GRCh38 |
| NC_000002.11:g.63349001_63349004del , CM000664.1:g.63349001_63349004del | GRCh37 |
| NC_000002.10:g.63202505_63202508del | NCBI36 |
| NG_028144.1:g.471869_471872del | |
| NG_028144.2:g.723962_723965del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.*142_*145del MANE Select | ENSP00000272321.7:n.*142_*145del | |
| ENST00000272321.11:c.*142_*145del | ENSP00000272321.7:n.*142_*145del | |
| ENST00000398544.7:c.*142_*145del | ENSP00000381552.3:n.*142_*145del | |
| ENST00000409120.5:c.*142_*145del | ENSP00000386769.1:n.*142_*145del | |
| ENST00000409199.5:c.*142_*145del | ENSP00000386592.1:n.*142_*145del | |
| ENST00000409354.6:c.1641_1644del | ENSP00000386795.2:n.1641_1644del | |
| ENST00000487280.1:n.394_397del | ||
| NM_001042692.2:c.*142_*145del | NP_001036157.1:n.*142_*145del | |
| NM_015910.5:c.*142_*145del | NP_056994.3:n.*142_*145del | |
| NR_122106.1:n.2026_2029del | ||
| XM_005264348.2:c.2303_2306del | XP_005264405.1:p.Cys768PhefsTer30 | |
| XM_011532881.1:c.2231_2234del | XP_011531183.1:p.Cys744PhefsTer30 | |
| XM_011532882.1:c.2204_2207del | XP_011531184.1:p.Cys735PhefsTer30 | |
| XR_244934.1:n.2626_2629del | ||
| XR_244935.1:n.2527_2530del | ||
| NM_001042692.3:c.*142_*145del | NP_001036157.1:n.*142_*145del | |
| NM_001354044.1:c.*142_*145del | NP_001340973.1:n.*142_*145del | |
| NM_015910.6:c.*142_*145del | NP_056994.3:n.*142_*145del | |
| NR_122106.2:n.2026_2029del | ||
| NR_148704.1:n.3159_3162del | ||
| NR_148705.1:n.2808_2811del | ||
| XM_005264348.4:c.2303_2306del | XP_005264405.1:p.Cys768PhefsTer30 | |
| XM_011532881.3:c.2231_2234del | XP_011531183.1:p.Cys744PhefsTer30 | |
| XR_001738759.2:n.2662_2665del | ||
| XR_001738760.2:n.2840_2843del | ||
| XR_002959303.1:n.3079_3082del | ||
| XR_244934.3:n.2841_2844del | ||
| NM_015910.7:c.*142_*145del MANE Select | NP_056994.3:n.*142_*145del | |
| NM_001354044.2:c.*142_*145del | NP_001340973.1:n.*142_*145del | |
| NR_148704.2:n.2837_2840del | ||
| NR_148705.2:n.2486_2489del |