Linked Data
dbSNP Id:
rs1557271011
gnomAD v2:
X-154065815-GC-G
gnomAD v3:
X-154837540-GC-G
gnomAD v4:
X-154837540-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837543del , CM000685.2:g.154837543del | GRCh38 |
| NC_000023.10:g.154065818del , CM000685.1:g.154065818del | GRCh37 |
| NC_000023.9:g.153719012del | NCBI36 |
| NG_011403.1:g.190183del | |
| NG_033065.1:g.2122del | |
| NG_011403.2:g.190183del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.*56del MANE Select | ENSP00000353393.4:n.*56del | |
| ENST00000644698.1:c.*56del | ENSP00000495706.1:n.*56del | |
| ENST00000330287.10:c.*56del | ENSP00000327895.6:n.*56del | |
| ENST00000360256.8:c.*56del | ENSP00000353393.4:n.*56del | |
| NM_000132.3:c.*56del | NP_000123.1:n.*56del | |
| NM_019863.2:c.*56del | NP_063916.1:n.*56del | |
| XM_011531126.1:c.*56del | XP_011529428.1:n.*56del | |
| NM_000132.4:c.*56del MANE Select | NP_000123.1:n.*56del | |
| NM_019863.3:c.*56del | NP_063916.1:n.*56del |