Linked Data
ClinVar Variation Id:
421312
ClinVar RCV Id:
RCV001712447
dbSNP Id:
rs745344704
gnomAD v3:
6-30914788-GCT-G
gnomAD v4:
6-30914788-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30914797_30914798del , CM000668.2:g.30914797_30914798del | GRCh38 |
| NC_000006.11:g.30882574_30882575del , CM000668.1:g.30882574_30882575del | GRCh37 |
| NC_000006.10:g.30990553_30990554del | NCBI36 |
| NG_034224.1:g.5590_5591del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.-32-8_-32-7del | ENSP00000441000.2:n.-32-8_-32-7del | |
| ENST00000672801.1:c.-40_-39del | ENSP00000500615.1:n.-40_-39del | |
| ENST00000676266.1:c.-27-13_-27-12del MANE Select | ENSP00000502585.1:n.-27-13_-27-12del | |
| ENST00000321897.9:c.-40_-39del | ENSP00000316092.5:n.-40_-39del | |
| ENST00000421263.1:c.-27-13_-27-12del | ENSP00000416390.1:n.-27-13_-27-12del | |
| ENST00000428017.5:c.-32-8_-32-7del | ENSP00000403749.1:n.-32-8_-32-7del | |
| ENST00000467717.5:n.80-359_80-358del | ||
| ENST00000477288.5:n.2549_2550del | ||
| ENST00000541562.5:c.59-8_59-7del | ENSP00000441000.1:n.59-8_59-7del | |
| ENST00000542001.5:c.-40_-39del | ENSP00000438200.2:n.-40_-39del | |
| ENST00000625423.2:c.-219-359_-219-358del | ENSP00000485818.1:n.-219-359_-219-358del | |
| NM_001167733.2:c.-219-359_-219-358del | NP_001161205.1:n.-219-359_-219-358del | |
| NM_001167734.1:c.59-8_59-7del | NP_001161206.1:n.59-8_59-7del | |
| NM_020442.5:c.-27-13_-27-12del | NP_065175.4:n.-27-13_-27-12del | |
| NM_001167733.3:c.-219-359_-219-358del | NP_001161205.1:n.-219-359_-219-358del | |
| NM_001167734.2:c.59-8_59-7del | NP_001161206.1:n.59-8_59-7del | |
| NM_020442.6:c.-27-13_-27-12del MANE Select | NP_065175.4:n.-27-13_-27-12del |