Linked Data
dbSNP Id:
rs1347578100
gnomAD v2:
19-12758445-GGGGCGGGGCCTGGATGGAGAA-G
gnomAD v3:
19-12647631-GGGGCGGGGCCTGGATGGAGAA-G
gnomAD v4:
19-12647631-GGGGCGGGGCCTGGATGGAGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12647642_12647662del , CM000681.2:g.12647642_12647662del | GRCh38 |
| NC_000019.9:g.12758456_12758476del , CM000681.1:g.12758456_12758476del | GRCh37 |
| NC_000019.8:g.12619456_12619476del | NCBI36 |
| NG_008318.1:g.24126_24146del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2665-54_2665-34del MANE Select | ENSP00000395473.2:n.2665-54_2665-34del | |
| ENST00000221363.8:c.2662-54_2662-34del | ENSP00000221363.4:n.2662-54_2662-34del | |
| ENST00000456935.6:c.2665-54_2665-34del | ENSP00000395473.2:n.2665-54_2665-34del | |
| ENST00000466794.5:n.3255-54_3255-34del | ||
| ENST00000493218.5:n.22_42del | ||
| ENST00000597692.1:c.224-54_224-34del | ||
| NM_000528.3:c.2665-54_2665-34del | NP_000519.2:n.2665-54_2665-34del | |
| NM_001173498.1:c.2662-54_2662-34del | NP_001166969.1:n.2662-54_2662-34del | |
| XM_005259913.1:c.2668-54_2668-34del | XP_005259970.1:n.2668-54_2668-34del | |
| XM_011528017.1:c.1564-54_1564-34del | XP_011526319.1:n.1564-54_1564-34del | |
| XM_005259913.2:c.2668-54_2668-34del | XP_005259970.1:n.2668-54_2668-34del | |
| XM_024451518.1:c.1564-54_1564-34del | XP_024307286.1:n.1564-54_1564-34del | |
| NM_000528.4:c.2665-54_2665-34del MANE Select | NP_000519.2:n.2665-54_2665-34del | |
| NM_001173498.2:c.2662-54_2662-34del | NP_001166969.1:n.2662-54_2662-34del |