Linked Data
dbSNP Id:
rs1795528168
gnomAD v3:
7-45000223-GGGCGGCGCCGGGAGCGCGGGGGC-G
gnomAD v4:
7-45000223-GGGCGGCGCCGGGAGCGCGGGGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45000229_45000251del , CM000669.2:g.45000229_45000251del | GRCh38 |
| NC_000007.13:g.45039828_45039850del , CM000669.1:g.45039828_45039850del | GRCh37 |
| NC_000007.12:g.45006353_45006375del | NCBI36 |
| NG_016295.1:g.5042_5064del , LRG_664:g.5042_5064del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258781.11:c.-105_-83del MANE Select | ENSP00000258781.7:n.-105_-83del | |
| ENST00000258781.10:c.-105_-83del | ENSP00000258781.6:n.-105_-83del | |
| ENST00000461377.5:n.383+372_383+394del | ||
| ENST00000478582.5:n.41_63del | ||
| ENST00000541586.5:c.-105_-83del | ENSP00000444725.1:n.-105_-83del | |
| ENST00000544363.5:c.-105_-83del | ENSP00000438035.1:n.-105_-83del | |
| NM_001167934.1:c.-105_-83del | NP_001161406.1:n.-105_-83del | |
| NM_001167935.1:c.-105_-83del | NP_001161407.1:n.-105_-83del | |
| NM_031443.3:c.-105_-83del , LRG_664t2:c.-105_-83del | NP_113631.1:n.-105_-83del | |
| NR_030770.1:n.112+372_112+394del | ||
| XM_011515562.1:c.-105_-83del | XP_011513864.1:n.-105_-83del | |
| NM_001363458.1:c.-105_-83del | NP_001350387.1:n.-105_-83del | |
| NM_001363459.1:c.-105_-83del | NP_001350388.1:n.-105_-83del | |
| NM_001363458.2:c.-105_-83del | NP_001350387.1:n.-105_-83del | |
| NM_001363459.2:c.-105_-83del | NP_001350388.1:n.-105_-83del | |
| NM_031443.4:c.-105_-83del MANE Select | NP_113631.1:n.-105_-83del | |
| NR_030770.2:n.112+372_112+394del | ||
| NM_001167934.2:c.-105_-83del | NP_001161406.1:n.-105_-83del | |
| NM_001167935.2:c.-105_-83del | NP_001161407.1:n.-105_-83del |