Linked Data
ClinVar Variation Id:
325899
ClinVar RCV Id:
RCV000278272
dbSNP Id:
rs886053570
gnomAD v2:
17-79890893-CCT-C
gnomAD v3:
17-81933017-CCT-C
gnomAD v4:
17-81933017-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81933018_81933019del , CM000679.2:g.81933018_81933019del | GRCh38 |
| NC_000017.10:g.79890894_79890895del , CM000679.1:g.79890894_79890895del | GRCh37 |
| NC_000017.9:g.77484185_77484186del | NCBI36 |
| NG_023032.1:g.9074_9075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329875.13:c.*195_*196del MANE Select | ENSP00000328858.8:n.*195_*196del | |
| ENST00000329875.12:c.*195_*196del | ENSP00000328858.8:n.*195_*196del | |
| ENST00000337943.9:c.868-56_868-55del | ENSP00000336579.5:n.868-56_868-55del | |
| ENST00000402252.6:c.*195_*196del | ENSP00000384949.2:n.*195_*196del | |
| ENST00000403172.8:c.*195_*196del | ENSP00000385483.4:n.*195_*196del | |
| ENST00000577756.5:c.*337_*338del | ENSP00000463352.1:n.*337_*338del | |
| ENST00000584848.5:c.859_860del | ENSP00000463342.1:n.859_860del | |
| ENST00000619204.4:c.*195_*196del | ENSP00000479793.1:n.*195_*196del | |
| ENST00000629768.2:c.*337_*338del | ENSP00000485679.1:n.*337_*338del | |
| NM_001282279.1:c.*195_*196del | NP_001269208.1:n.*195_*196del | |
| NM_001282280.1:c.*195_*196del | NP_001269209.1:n.*195_*196del | |
| NM_001282281.1:c.*195_*196del | NP_001269210.1:n.*195_*196del | |
| NM_006907.3:c.*195_*196del | NP_008838.2:n.*195_*196del | |
| NM_153824.2:c.868-56_868-55del | NP_722546.1:n.868-56_868-55del | |
| XM_005256381.1:c.*195_*196del | XP_005256438.1:n.*195_*196del | |
| XM_011523583.1:c.*195_*196del | XP_011521885.1:n.*195_*196del | |
| XM_011523584.1:c.*195_*196del | XP_011521886.1:n.*195_*196del | |
| XM_011523585.1:c.*337_*338del | XP_011521887.1:n.*337_*338del | |
| NM_001330523.1:c.*337_*338del | NP_001317452.1:n.*337_*338del | |
| XM_005256381.2:c.*195_*196del | XP_005256438.1:n.*195_*196del | |
| XM_011523583.2:c.*195_*196del | XP_011521885.1:n.*195_*196del | |
| XM_011523584.3:c.*195_*196del | XP_011521886.1:n.*195_*196del | |
| XM_011523585.2:c.*337_*338del | XP_011521887.1:n.*337_*338del | |
| XM_024450849.1:c.*195_*196del | XP_024306617.1:n.*195_*196del | |
| NM_001282279.2:c.*195_*196del | NP_001269208.1:n.*195_*196del | |
| NM_001282281.2:c.*195_*196del | NP_001269210.1:n.*195_*196del | |
| NM_006907.4:c.*195_*196del MANE Select | NP_008838.2:n.*195_*196del | |
| NM_153824.3:c.868-56_868-55del | NP_722546.1:n.868-56_868-55del | |
| NM_001282280.2:c.*195_*196del | NP_001269209.1:n.*195_*196del | |
| NM_001330523.2:c.*337_*338del | NP_001317452.1:n.*337_*338del |