Linked Data
dbSNP Id:
rs1405244554
gnomAD v2:
7-55235961-TC-T
gnomAD v3:
7-55168268-TC-T
gnomAD v4:
7-55168268-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55168273del , CM000669.2:g.55168273del | GRCh38 |
| NC_000007.13:g.55235966del , CM000669.1:g.55235966del | GRCh37 |
| NC_000007.12:g.55203460del | NCBI36 |
| NG_007726.3:g.154242del , LRG_304:g.154242del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.1721+2836del | ENSP00000413354.2:n.1721+2836del | |
| ENST00000700145.1:c.229+2836del | ||
| ENST00000344576.7:c.1881-2034del | ENSP00000345973.2:n.1881-2034del | |
| ENST00000275493.7:c.1880+2836del MANE Select | ENSP00000275493.2:n.1880+2836del | |
| ENST00000275493.6:c.1880+2836del | ENSP00000275493.2:n.1880+2836del | |
| ENST00000342916.7:c.1881-250del | ENSP00000342376.3:n.1881-250del | |
| ENST00000344576.6:c.1881-2034del | ENSP00000345973.2:n.1881-2034del | |
| ENST00000442591.5:c.1880+2836del | ENSP00000410031.1:n.1880+2836del | |
| ENST00000454757.6:c.1745+2836del | ENSP00000395243.3:n.1745+2836del | |
| ENST00000455089.5:c.1745+2836del | ENSP00000415559.1:n.1745+2836del | |
| NM_005228.3:c.1880+2836del , LRG_304t1:c.1880+2836del | NP_005219.2:n.1880+2836del | |
| NM_201282.1:c.1881-250del | NP_958439.1:n.1881-250del | |
| NM_201284.1:c.1881-2034del | NP_958441.1:n.1881-2034del | |
| NM_001346897.1:c.1745+2836del | NP_001333826.1:n.1745+2836del | |
| NM_001346898.1:c.1880+2836del | NP_001333827.1:n.1880+2836del | |
| NM_001346899.1:c.1745+2836del | NP_001333828.1:n.1745+2836del | |
| NM_001346900.1:c.1721+2836del | NP_001333829.1:n.1721+2836del | |
| NM_001346941.1:c.1079+2836del | NP_001333870.1:n.1079+2836del | |
| NM_005228.4:c.1880+2836del | NP_005219.2:n.1880+2836del | |
| NM_005228.5:c.1880+2836del MANE Select | NP_005219.2:n.1880+2836del | |
| NM_001346897.2:c.1745+2836del | NP_001333826.1:n.1745+2836del | |
| NM_001346898.2:c.1880+2836del | NP_001333827.1:n.1880+2836del | |
| NM_001346900.2:c.1721+2836del | NP_001333829.1:n.1721+2836del | |
| NM_001346941.2:c.1079+2836del | NP_001333870.1:n.1079+2836del | |
| NM_201282.2:c.1881-250del | NP_958439.1:n.1881-250del | |
| NM_201284.2:c.1881-2034del | NP_958441.1:n.1881-2034del | |
| NM_001346899.2:c.1745+2836del | NP_001333828.1:n.1745+2836del |