Linked Data
ClinVar Variation Id:
554014
ClinVar RCV Id:
RCV000669563
dbSNP Id:
rs1348254028
gnomAD v2:
2-73828563-GGTGCAGTGAC-G
gnomAD v4:
2-73601436-GGTGCAGTGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73601439_73601448del , CM000664.2:g.73601439_73601448del | GRCh38 |
| NC_000002.11:g.73828566_73828575del , CM000664.1:g.73828566_73828575del | GRCh37 |
| NC_000002.10:g.73682074_73682083del | NCBI36 |
| NG_011690.1:g.220687_220696del , LRG_741:g.220687_220696del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.11733+3_11733+12del | ENSP00000507671.1:n.11733+3_11733+12del | |
| ENST00000682801.1:c.11167-746_11167-737del | ENSP00000507862.1:n.11167-746_11167-737del | |
| ENST00000682859.1:c.11733+3_11733+12del | ENSP00000508222.1:n.11733+3_11733+12del | |
| ENST00000683791.1:c.4819+3_4819+12del | ||
| ENST00000684460.1:c.9014+3_9014+12del | ||
| ENST00000684548.1:c.11733+3_11733+12del | ENSP00000507421.1:n.11733+3_11733+12del | |
| ENST00000684590.1:c.6180+3_6180+12del | ENSP00000507376.1:n.6180+3_6180+12del | |
| ENST00000684656.1:c.9198+3_9198+12del | ||
| ENST00000613296.6:c.12114+3_12114+12del MANE Select | ENSP00000482968.1:n.12114+3_12114+12del | |
| ENST00000651057.1:c.2268+3_2268+12del | ENSP00000498504.1:n.2268+3_2268+12del | |
| ENST00000651434.1:c.3470+3_3470+12del | ||
| ENST00000651750.1:c.1260+558_1260+567del | ||
| ENST00000652487.1:c.3285+3_3285+12del | ||
| ENST00000464408.3:n.289+3_289+12del | ||
| ENST00000484298.5:c.11988+3_11988+12del | ENSP00000478155.1:n.11988+3_11988+12del | |
| ENST00000613296.4:c.12114+3_12114+12del | ENSP00000482968.1:n.12114+3_12114+12del | |
| ENST00000620466.4:n.5917+3_5917+12del | ||
| NM_015120.4:c.12117+3_12117+12del , LRG_741t1:c.12117+3_12117+12del | NP_055935.4:n.12117+3_12117+12del | |
| NM_001378454.1:c.12114+3_12114+12del MANE Select | NP_001365383.1:n.12114+3_12114+12del |