Linked Data
ClinVar Variation Id:
177893
ClinVar RCV Id:
RCV000154545
dbSNP Id:
rs727504386
gnomAD v2:
12-25403809-CGCCGCCGCCACT-C
gnomAD v3:
12-25250875-CGCCGCCGCCACT-C
gnomAD v4:
12-25250875-CGCCGCCGCCACT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25250885_25250896del , CM000674.2:g.25250885_25250896del | GRCh38 |
| NC_000012.11:g.25403819_25403830del , CM000674.1:g.25403819_25403830del | GRCh37 |
| NC_000012.10:g.25295086_25295097del | NCBI36 |
| NG_007524.1:g.5034_5045del | |
| NG_007524.2:g.5117_5128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556131.2:c.-148_-137del | ENSP00000451856.1:n.-148_-137del | |
| ENST00000557334.6:c.-148_-137del | ENSP00000452512.1:n.-148_-137del | |
| ENST00000685328.1:c.-135_-124del | ENSP00000508921.1:n.-135_-124del | |
| ENST00000686877.1:c.-148_-137del | ENSP00000510431.1:n.-148_-137del | |
| ENST00000686969.1:c.-135_-124del | ENSP00000510479.1:n.-135_-124del | |
| ENST00000687356.1:c.-148_-137del | ENSP00000510511.1:n.-148_-137del | |
| ENST00000690804.1:c.-148_-137del | ENSP00000508568.1:n.-148_-137del | |
| ENST00000692768.1:c.-224_-213del | ENSP00000510254.1:n.-224_-213del | |
| ENST00000693229.1:c.-148_-137del | ENSP00000509223.1:n.-148_-137del | |
| ENST00000256078.10:c.-148_-137del MANE Plus Clinical | ENSP00000256078.5:n.-148_-137del | |
| ENST00000311936.8:c.-148_-137del MANE Select | ENSP00000308495.3:n.-148_-137del | |
| ENST00000311936.7:c.-148_-137del | ENSP00000308495.3:n.-148_-137del | |
| ENST00000556131.1:c.-135_-124del | ENSP00000451856.1:n.-135_-124del | |
| ENST00000557334.5:c.-148_-137del | ENSP00000452512.1:n.-148_-137del | |
| NM_004985.4:c.-148_-137del | NP_004976.2:n.-148_-137del | |
| NM_033360.3:c.-148_-137del | NP_203524.1:n.-148_-137del | |
| XM_006719069.2:c.-135_-124del | XP_006719132.1:n.-135_-124del | |
| XM_011520653.1:c.-135_-124del | XP_011518955.1:n.-135_-124del | |
| XM_006719069.4:c.-135_-124del | XP_006719132.1:n.-135_-124del | |
| XM_011520653.3:c.-135_-124del | XP_011518955.1:n.-135_-124del | |
| NM_001369786.1:c.-135_-124del | NP_001356715.1:n.-135_-124del | |
| NM_001369787.1:c.-135_-124del | NP_001356716.1:n.-135_-124del | |
| NM_004985.5:c.-148_-137del MANE Select | NP_004976.2:n.-148_-137del | |
| NM_033360.4:c.-148_-137del MANE Plus Clinical | NP_203524.1:n.-148_-137del |