Linked Data
gnomAD v4:
7-152675971-TCCCTCGGCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152675978_152675987del , CM000669.2:g.152675978_152675987del | GRCh38 |
| NC_000007.13:g.152373063_152373072del , CM000669.1:g.152373063_152373072del | GRCh37 |
| NC_000007.12:g.152003996_152004005del | NCBI36 |
| NG_027988.1:g.5185_5194del | |
| NG_027988.2:g.5185_5194del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-48+60_-48+69del | ENSP00000513758.1:n.-48+60_-48+69del | |
| ENST00000698507.1:n.107+60_107+69del | ||
| ENST00000359321.2:c.39+60_39+69del MANE Select | ENSP00000352271.1:n.39+60_39+69del | |
| ENST00000359321.1:c.39+60_39+69del | ENSP00000352271.1:n.39+60_39+69del | |
| NM_005431.1:c.39+60_39+69del | NP_005422.1:n.39+60_39+69del | |
| NM_005431.2:c.39+60_39+69del MANE Select | NP_005422.1:n.39+60_39+69del |