Linked Data
dbSNP Id:
rs1567618094
gnomAD v2:
17-6599353-CAA-C
gnomAD v3:
17-6696034-CAA-C
gnomAD v4:
17-6696034-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6696038_6696039del , CM000679.2:g.6696038_6696039del | GRCh38 |
| NC_000017.10:g.6599357_6599358del , CM000679.1:g.6599357_6599358del | GRCh37 |
| NC_000017.9:g.6540081_6540082del | NCBI36 |
| NG_034220.1:g.22386_22387del , LRG_1020:g.22386_22387del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.840-95_840-94del MANE Select | ENSP00000406220.2:n.840-95_840-94del | |
| ENST00000293800.10:c.789-95_789-94del | ENSP00000293800.6:n.789-95_789-94del | |
| ENST00000381074.8:c.711-95_711-94del | ENSP00000370464.4:n.711-95_711-94del | |
| ENST00000433363.6:c.840-95_840-94del | ENSP00000406220.2:n.840-95_840-94del | |
| ENST00000572094.1:c.*590-95_*590-94del | ENSP00000461495.1:n.*590-95_*590-94del | |
| ENST00000573648.5:c.840-95_840-94del | ENSP00000459372.1:n.840-95_840-94del | |
| ENST00000574824.5:n.1973-95_1973-94del | ||
| NM_001143838.2:c.840-95_840-94del | NP_001137310.1:n.840-95_840-94del | |
| NM_001284509.1:c.789-95_789-94del | NP_001271438.1:n.789-95_789-94del | |
| NM_001284510.1:c.711-95_711-94del | NP_001271439.1:n.711-95_711-94del | |
| NM_177550.4:c.840-95_840-94del , LRG_1020t1:c.840-95_840-94del | NP_808218.1:n.840-95_840-94del | |
| XM_006721504.2:c.729-95_729-94del | XP_006721567.1:n.729-95_729-94del | |
| XM_011523795.1:c.840-95_840-94del | XP_011522097.1:n.840-95_840-94del | |
| XM_011523795.3:c.840-95_840-94del | XP_011522097.1:n.840-95_840-94del | |
| NM_001143838.3:c.840-95_840-94del | NP_001137310.1:n.840-95_840-94del | |
| NM_001284509.2:c.789-95_789-94del | NP_001271438.1:n.789-95_789-94del | |
| NM_001284510.2:c.711-95_711-94del | NP_001271439.1:n.711-95_711-94del | |
| NM_177550.5:c.840-95_840-94del MANE Select | NP_808218.1:n.840-95_840-94del |