Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475192_134475193delinsC , CM000685.2:g.134475192_134475193delinsC | GRCh38 |
| NC_000023.10:g.133609222_133609223delinsC , CM000685.1:g.133609222_133609223delinsC | GRCh37 |
| NC_000023.9:g.133436888_133436889delinsC | NCBI36 |
| NG_012329.1:g.20048_20049delinsC | |
| NG_012329.2:g.20048_20049delinsC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298556.8:c.146_147delinsC MANE Select | ENSP00000298556.7:p.Leu49ProfsTer5 | |
| ENST00000298556.7:c.146_147delinsC | ENSP00000298556.7:p.Leu49ProfsTer5 | |
| ENST00000462974.5:n.304_305delinsC | ||
| ENST00000475720.1:n.104_105delinsC | ||
| NM_000194.2:c.146_147delinsC | NP_000185.1:p.Leu49ProfsTer5 | |
| XM_011531328.1:c.164_165delinsC | XP_011529630.1:p.Leu55ProfsTer5 | |
| NM_000194.3:c.146_147delinsC MANE Select | NP_000185.1:p.Leu49ProfsTer5 |