Linked Data
gnomAD v4:
7-152648906-TGCAAAAAGAACCAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648909_152648922del , CM000669.2:g.152648909_152648922del | GRCh38 |
| NC_000007.13:g.152345994_152346007del , CM000669.1:g.152345994_152346007del | GRCh37 |
| NC_000007.12:g.151976927_151976940del | NCBI36 |
| NG_027988.1:g.32246_32259del | |
| NG_027988.2:g.32246_32259del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.397_410del | ENSP00000513758.1:p.Leu133AsnfsTer25 | |
| ENST00000359321.2:c.565_578del MANE Select | ENSP00000352271.1:p.Leu189AsnfsTer25 | |
| ENST00000359321.1:c.565_578del | ENSP00000352271.1:p.Leu189AsnfsTer25 | |
| ENST00000495707.1:n.587_600del | ||
| NM_005431.1:c.565_578del | NP_005422.1:p.Leu189AsnfsTer25 | |
| NM_005431.2:c.565_578del MANE Select | NP_005422.1:p.Leu189AsnfsTer25 |