Linked Data
dbSNP Id:
rs1568309118
gnomAD v2:
19-860583-AC-A
gnomAD v3:
19-860583-AC-A
gnomAD v4:
19-860583-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.860587del , CM000681.2:g.860587del | GRCh38 |
| NC_000019.9:g.860587del , CM000681.1:g.860587del | GRCh37 |
| NC_000019.8:g.811587del | NCBI36 |
| NG_007274.1:g.5923del , LRG_46:g.5923del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592860.3:c.77-30del | ENSP00000468253.1:n.77-30del | |
| ENST00000695942.1:c.-62-30del | ENSP00000512275.1:n.-62-30del | |
| ENST00000695943.1:c.-62-30del | ENSP00000512276.1:n.-62-30del | |
| ENST00000695944.1:c.-62-30del | ENSP00000512277.1:n.-62-30del | |
| ENST00000695945.1:c.56-30del | ENSP00000512278.1:n.56-30del | |
| ENST00000327726.11:c.56-30del MANE Select | ENSP00000332139.4:n.56-30del | |
| ENST00000327726.10:c.56-30del | ENSP00000332139.4:n.56-30del | |
| ENST00000592860.2:c.77-30del | ENSP00000468253.1:n.77-30del | |
| NM_001928.2:c.56-30del , LRG_46t1:c.56-30del | NP_001919.2:n.56-30del | |
| NM_001317335.1:c.77-30del | NP_001304264.1:n.77-30del | |
| NM_001928.3:c.56-30del | NP_001919.2:n.56-30del | |
| NM_001317335.2:c.77-30del | NP_001304264.1:n.77-30del | |
| NM_001928.4:c.56-30del MANE Select | NP_001919.2:n.56-30del |