Linked Data
dbSNP Id:
rs1854149414
gnomAD v3:
10-125823119-GAGCAATGACAACAGGGGCGGA-G
gnomAD v4:
10-125823119-GAGCAATGACAACAGGGGCGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125823123_125823143del , CM000672.2:g.125823123_125823143del | GRCh38 |
| NC_000010.10:g.127511692_127511712del , CM000672.1:g.127511692_127511712del | GRCh37 |
| NC_000010.9:g.127501682_127501702del | NCBI36 |
| NG_011557.1:g.5129_5149del | |
| NG_029095.1:g.4589_4609del | |
| NG_011557.2:g.5129_5149del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713579.1:c.-138_-118del | ENSP00000518871.1:n.-138_-118del | |
| ENST00000368797.10:c.-138_-118del MANE Select | ENSP00000357787.4:n.-138_-118del | |
| ENST00000648119.1:c.-138_-118del | ENSP00000497494.1:n.-138_-118del | |
| ENST00000648427.1:c.-138_-118del | ENSP00000497909.1:n.-138_-118del | |
| ENST00000649536.1:c.-138_-118del | ENSP00000497817.1:n.-138_-118del | |
| ENST00000368778.7:c.-138_-118del | ENSP00000357767.3:n.-138_-118del | |
| ENST00000368797.8:c.-138_-118del | ENSP00000357787.4:n.-138_-118del | |
| ENST00000420761.5:c.-138_-118del | ENSP00000414833.1:n.-138_-118del | |
| NM_000375.2:c.-138_-118del | NP_000366.1:n.-138_-118del | |
| XM_006717960.2:c.-27+67_-27+87del | XP_006718023.1:n.-27+67_-27+87del | |
| NM_000375.3:c.-138_-118del MANE Select | NP_000366.1:n.-138_-118del | |
| NM_001324036.1:c.-138_-118del | NP_001310965.1:n.-138_-118del | |
| NM_001324037.1:c.-138_-118del | NP_001310966.1:n.-138_-118del | |
| NM_001324038.1:c.-138_-118del | NP_001310967.1:n.-138_-118del | |
| NM_001324039.1:c.-138_-118del | NP_001310968.1:n.-138_-118del | |
| NR_136675.1:n.129_149del | ||
| NR_136676.1:n.129_149del | ||
| NR_136677.1:n.129_149del | ||
| NR_136678.1:n.129_149del | ||
| XM_017016611.2:c.-27+67_-27+87del | XP_016872100.2:n.-27+67_-27+87del | |
| XM_024448154.1:c.-27+67_-27+87del | XP_024303922.1:n.-27+67_-27+87del | |
| XM_024448155.1:c.-138_-118del | XP_024303923.1:n.-138_-118del | |
| XR_002957010.1:n.38+67_38+87del | ||
| NM_001324036.2:c.-138_-118del | NP_001310965.1:n.-138_-118del | |
| NM_001324037.2:c.-138_-118del | NP_001310966.1:n.-138_-118del | |
| NM_001324038.2:c.-138_-118del | NP_001310967.1:n.-138_-118del | |
| NR_136675.2:n.119_139del | ||
| NR_136676.2:n.119_139del | ||
| NR_136678.2:n.119_139del | ||
| NM_001324039.2:c.-138_-118del | NP_001310968.1:n.-138_-118del | |
| NR_136677.2:n.119_139del |