Linked Data
dbSNP Id:
rs1308076810
gnomAD v2:
20-948800-CAGA-C
gnomAD v3:
20-968157-CAGA-C
gnomAD v4:
20-968157-CAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.968160_968162del , CM000682.2:g.968160_968162del | GRCh38 |
| NC_000020.10:g.948803_948805del , CM000682.1:g.948803_948805del | GRCh37 |
| NC_000020.9:g.896803_896805del | NCBI36 |
| NG_013043.1:g.39105_39107del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.80-22_80-20del MANE Select | ENSP00000217260.4:n.80-22_80-20del | |
| ENST00000217260.8:c.80-22_80-20del | ENSP00000217260.4:n.80-22_80-20del | |
| ENST00000400634.2:c.80-22_80-20del | ENSP00000383475.2:n.80-22_80-20del | |
| NM_001029871.3:c.80-22_80-20del | NP_001025042.2:n.80-22_80-20del | |
| NM_001040007.2:c.80-22_80-20del | NP_001035096.1:n.80-22_80-20del | |
| XM_011529232.1:c.128-22_128-20del | XP_011527534.1:n.128-22_128-20del | |
| XM_011529233.1:c.128-22_128-20del | XP_011527535.1:n.128-22_128-20del | |
| XR_937068.1:n.200-22_200-20del | ||
| XR_937069.1:n.195-22_195-20del | ||
| XM_017027839.1:c.80-22_80-20del | XP_016883328.1:n.80-22_80-20del | |
| NM_001029871.4:c.80-22_80-20del MANE Select | NP_001025042.2:n.80-22_80-20del | |
| NM_001040007.3:c.80-22_80-20del | NP_001035096.1:n.80-22_80-20del |