Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660722_152660726delinsCAGCA , CM000669.2:g.152660722_152660726delinsCAGCA | GRCh38 |
| NC_000007.13:g.152357807_152357811delinsCAGCA , CM000669.1:g.152357807_152357811delinsCAGCA | GRCh37 |
| NC_000007.12:g.151988740_151988744delinsCAGCA | NCBI36 |
| NG_027988.1:g.20440_20444delinsTGCTG | |
| NG_027988.2:g.20440_20444delinsTGCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-47-11363_-47-11359delinsTGCTG | ENSP00000513758.1:n.-47-11363_-47-11359delinsTGCTG | |
| ENST00000698507.1:n.164_168delinsTGCTG | ||
| ENST00000359321.2:c.96_100delinsTGCTG MANE Select | ENSP00000352271.1:p.Phe32= | |
| ENST00000359321.1:c.96_100delinsTGCTG | ENSP00000352271.1:p.Phe32= | |
| ENST00000495707.1:n.118_122delinsTGCTG | ||
| NM_005431.1:c.96_100delinsTGCTG | NP_005422.1:p.Phe32= | |
| NM_005431.2:c.96_100delinsTGCTG MANE Select | NP_005422.1:p.Phe32= |