Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648921_152648922delinsAA , CM000669.2:g.152648921_152648922delinsAA | GRCh38 |
| NC_000007.13:g.152346006_152346007delinsAA , CM000669.1:g.152346006_152346007delinsAA | GRCh37 |
| NC_000007.12:g.151976939_151976940delinsAA | NCBI36 |
| NG_027988.1:g.32244_32245delinsTT | |
| NG_027988.2:g.32244_32245delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.395_396delinsTT | ENSP00000513758.1:p.Arg132Leu | |
| ENST00000359321.2:c.563_564delinsTT MANE Select | ENSP00000352271.1:p.Arg188Leu | |
| ENST00000359321.1:c.563_564delinsTT | ENSP00000352271.1:p.Arg188Leu | |
| ENST00000495707.1:n.585_586delinsTT | ||
| NM_005431.1:c.563_564delinsTT | NP_005422.1:p.Arg188Leu | |
| NM_005431.2:c.563_564delinsTT MANE Select | NP_005422.1:p.Arg188Leu |