Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071924_111071928delinsGTTTC , CM000667.2:g.111071924_111071928delinsGTTTC | GRCh38 |
| NC_000005.9:g.110407622_110407626delinsGTTTC , CM000667.1:g.110407622_110407626delinsGTTTC | GRCh37 |
| NC_000005.8:g.110435521_110435525delinsGTTTC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.34_38delinsGTTTC MANE Select | ENSP00000339804.3:p.Val12= | |
| ENST00000344895.3:c.34_38delinsGTTTC | ENSP00000339804.3:p.Val12= | |
| ENST00000420978.6:c.35-1_38delinsGTTTC | ||
| NM_033035.4:c.34_38delinsGTTTC | NP_149024.1:p.Val12= | |
| NR_045089.1:n.1439-1_1442delinsGTTTC | ||
| NM_033035.5:c.34_38delinsGTTTC MANE Select | NP_149024.1:p.Val12= | |
| NR_045089.2:n.1457-1_1460delinsGTTTC |