Linked Data
dbSNP Id:
rs1171172143
gnomAD v3:
9-6428533-CTTTTTTTTTTTTTT-C
gnomAD v4:
9-6428533-CTTTTTTTTTTTTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6428558_6428571del , CM000671.2:g.6428558_6428571del | GRCh38 |
| NC_000009.11:g.6428558_6428571del , CM000671.1:g.6428558_6428571del | GRCh37 |
| NC_000009.10:g.6418558_6418571del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276893.10:c.385-5356_385-5343del MANE Select | ENSP00000276893.5:n.385-5356_385-5343del | |
| ENST00000276893.9:c.385-5356_385-5343del | ENSP00000276893.5:n.385-5356_385-5343del | |
| ENST00000450508.1:c.-26+7416_-26+7429del | ENSP00000399217.1:n.-26+7416_-26+7429del | |
| ENST00000461236.1:n.343-5356_343-5343del | ||
| ENST00000468435.6:c.385-5356_385-5343del | ENSP00000434182.1:n.385-5356_385-5343del | |
| ENST00000469298.5:n.556-5356_556-5343del | ||
| ENST00000481049.5:n.367-5356_367-5343del | ||
| NM_152896.2:c.385-5356_385-5343del | NP_690856.1:n.385-5356_385-5343del | |
| NR_046386.1:n.725-5356_725-5343del | ||
| XM_011517703.1:c.385-5356_385-5343del | XP_011516005.1:n.385-5356_385-5343del | |
| XM_011517704.1:c.-285-5356_-285-5343del | XP_011516006.1:n.-285-5356_-285-5343del | |
| XM_011517705.1:c.-26+7416_-26+7429del | XP_011516007.1:n.-26+7416_-26+7429del | |
| XR_428418.2:n.728-5356_728-5343del | ||
| XR_428419.2:n.728-5356_728-5343del | ||
| XR_428420.2:n.728-5356_728-5343del | ||
| XR_428421.2:n.728-5356_728-5343del | ||
| XR_929173.1:n.728-5356_728-5343del | ||
| XM_011517704.2:c.-285-5356_-285-5343del | XP_011516006.1:n.-285-5356_-285-5343del | |
| XM_011517705.2:c.-26+7416_-26+7429del | XP_011516007.1:n.-26+7416_-26+7429del | |
| XM_017014253.1:c.385-5356_385-5343del | XP_016869742.1:n.385-5356_385-5343del | |
| XM_017014254.1:c.-559-5356_-559-5343del | XP_016869743.1:n.-559-5356_-559-5343del | |
| XR_001746178.2:n.728-5356_728-5343del | ||
| XR_001746179.1:n.728-5356_728-5343del | ||
| XR_001746180.2:n.728-5356_728-5343del | ||
| XR_001746181.1:n.728-5356_728-5343del | ||
| XR_001746182.1:n.728-5356_728-5343del | ||
| XR_428418.4:n.728-5356_728-5343del | ||
| NM_152896.3:c.385-5356_385-5343del MANE Select | NP_690856.1:n.385-5356_385-5343del | |
| NR_046386.2:n.677-5356_677-5343del |