Linked Data
dbSNP Id:
rs1831540834
gnomAD v3:
9-134432045-AGAGGTGCCT-A
gnomAD v4:
9-134432045-AGAGGTGCCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134432047_134432055del , CM000671.2:g.134432047_134432055del | GRCh38 |
| NC_000009.11:g.137323893_137323901del , CM000671.1:g.137323893_137323901del | GRCh37 |
| NC_000009.10:g.136463714_136463722del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.1135+51_1135+59del MANE Select | ENSP00000419692.1:n.1135+51_1135+59del | |
| ENST00000672570.1:c.1054+51_1054+59del | ENSP00000500402.1:n.1054+51_1054+59del | |
| ENST00000356384.4:n.1545+51_1545+59del | ||
| ENST00000481739.1:c.1135+51_1135+59del | ENSP00000419692.1:n.1135+51_1135+59del | |
| NM_001291920.1:c.1054+51_1054+59del | NP_001278849.1:n.1054+51_1054+59del | |
| NM_001291921.1:c.844+51_844+59del | NP_001278850.1:n.844+51_844+59del | |
| NM_002957.5:c.1135+51_1135+59del | NP_002948.1:n.1135+51_1135+59del | |
| NM_002957.6:c.1135+51_1135+59del MANE Select | NP_002948.1:n.1135+51_1135+59del | |
| NM_001291921.2:c.844+51_844+59del | NP_001278850.1:n.844+51_844+59del | |
| NM_001291920.2:c.1054+51_1054+59del | NP_001278849.1:n.1054+51_1054+59del |