Linked Data
gnomAD v4:
1-1535879-GTGTGACCGCGTCAGGCCGCCCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535880_1535901del , CM000663.2:g.1535880_1535901del | GRCh38 |
| NC_000001.10:g.1471260_1471281del , CM000663.1:g.1471260_1471281del | GRCh37 |
| NC_000001.9:g.1461123_1461144del | NCBI36 |
| NG_041807.1:g.9460_9481del | |
| NG_053035.1:g.28738_28759del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.165-104_165-83del MANE Select | ENSP00000368007.4:n.165-104_165-83del | |
| ENST00000378733.8:c.165-104_165-83del | ENSP00000368007.4:n.165-104_165-83del | |
| ENST00000425828.1:c.165-104_165-83del | ENSP00000400311.1:n.165-104_165-83del | |
| NM_001114748.1:c.165-104_165-83del | NP_001108220.1:n.165-104_165-83del | |
| NM_001114748.2:c.165-104_165-83del MANE Select | NP_001108220.1:n.165-104_165-83del |