Linked Data
gnomAD v4:
19-10115451-AGGGGCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115457_10115462del , CM000681.2:g.10115457_10115462del | GRCh38 |
| NC_000019.9:g.10226133_10226138del , CM000681.1:g.10226133_10226138del | GRCh37 |
| NC_000019.8:g.10087133_10087138del | NCBI36 |
| NG_047007.1:g.8937_8942del | |
| NG_051197.1:g.9468_9473del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.947+22_947+27del MANE Select | ENSP00000253108.3:n.947+22_947+27del | |
| ENST00000253108.8:c.947+22_947+27del | ENSP00000253108.3:n.947+22_947+27del | |
| ENST00000590158.1:n.966+22_966+27del | ||
| ENST00000593054.5:c.341+22_341+27del | ENSP00000467187.1:n.341+22_341+27del | |
| NM_003755.3:c.947+22_947+27del | NP_003746.2:n.947+22_947+27del | |
| NM_003755.4:c.947+22_947+27del | NP_003746.2:n.947+22_947+27del | |
| NM_003755.5:c.947+22_947+27del MANE Select | NP_003746.2:n.947+22_947+27del |