Linked Data
dbSNP Id:
rs140610549
gnomAD v2:
5-1260515-GCA-G
gnomAD v3:
5-1260400-GCA-G
gnomAD v4:
5-1260400-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1260415_1260416del , CM000667.2:g.1260415_1260416del | GRCh38 |
| NC_000005.9:g.1260530_1260531del , CM000667.1:g.1260530_1260531del | GRCh37 |
| NC_000005.8:g.1313530_1313531del | NCBI36 |
| NG_009265.1:g.39646_39647del , LRG_343:g.39646_39647del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.2970+72_2970+73del MANE Select | ENSP00000309572.5:n.2970+72_2970+73del | |
| ENST00000656021.1:c.*2516+72_*2516+73del | ENSP00000499759.1:n.*2516+72_*2516+73del | |
| ENST00000667927.1:n.258+72_258+73del | ||
| ENST00000310581.9:c.2970+72_2970+73del | ENSP00000309572.5:n.2970+72_2970+73del | |
| ENST00000334602.10:c.2781+72_2781+73del | ENSP00000334346.6:n.2781+72_2781+73del | |
| ENST00000460137.6:c.2563+72_2563+73del | ENSP00000425003.1:n.2563+72_2563+73del | |
| ENST00000484238.6:n.1412+72_1412+73del | ||
| NM_001193376.1:c.2781+72_2781+73del | NP_001180305.1:n.2781+72_2781+73del | |
| NM_198253.2:c.2970+72_2970+73del , LRG_343t1:c.2970+72_2970+73del | NP_937983.2:n.2970+72_2970+73del | |
| XM_011514104.1:c.1440+72_1440+73del | XP_011512406.1:n.1440+72_1440+73del | |
| XM_011514105.1:c.1326+72_1326+73del | XP_011512407.1:n.1326+72_1326+73del | |
| XM_011514106.1:c.1326+72_1326+73del | XP_011512408.1:n.1326+72_1326+73del | |
| NR_149162.1:n.2657+72_2657+73del | ||
| NR_149163.1:n.2621+72_2621+73del | ||
| NM_001193376.2:c.2781+72_2781+73del | NP_001180305.1:n.2781+72_2781+73del | |
| NM_198253.3:c.2970+72_2970+73del MANE Select | NP_937983.2:n.2970+72_2970+73del | |
| NR_149162.2:n.2678+72_2678+73del | ||
| NR_149163.2:n.2642+72_2642+73del | ||
| NM_001193376.3:c.2781+72_2781+73del | NP_001180305.1:n.2781+72_2781+73del | |
| NR_149162.3:n.2678+72_2678+73del | ||
| NR_149163.3:n.2642+72_2642+73del |