Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424065_23424068delinsTCTC , CM000676.2:g.23424065_23424068delinsTCTC | GRCh38 |
| NC_000014.8:g.23893274_23893277delinsTCTC , CM000676.1:g.23893274_23893277delinsTCTC | GRCh37 |
| NC_000014.7:g.22963114_22963117delinsTCTC | NCBI36 |
| NG_007884.1:g.16594_16597delinsGAGA , LRG_384:g.16594_16597delinsGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2761_2764delinsGAGA MANE Select | ENSP00000347507.3:p.Glu921= | |
| ENST00000355349.3:c.2761_2764delinsGAGA | ENSP00000347507.3:p.Glu921= | |
| NM_000257.3:c.2761_2764delinsGAGA | NP_000248.2:p.Glu921= | |
| XR_245686.3:n.2867_2870delinsGAGA | ||
| XM_017021340.1:c.2761_2764delinsGAGA | XP_016876829.1:p.Glu921= | |
| NM_000257.4:c.2761_2764delinsGAGA MANE Select | NP_000248.2:p.Glu921= |