Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716720_14716722del , CM000667.2:g.14716720_14716722del | GRCh38 |
| NC_000005.9:g.14716829_14716831del , CM000667.1:g.14716829_14716831del | GRCh37 |
| NC_000005.8:g.14769829_14769831del | NCBI36 |
| NG_008273.1:g.160061_160063del | |
| NG_008273.2:g.160068_160070del | |
| NG_051625.1:g.60927_60929del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284268.8:c.1129_1131del MANE Select | ENSP00000284268.6:p.Phe377del | |
| ENST00000284268.6:c.1129_1131del | ENSP00000284268.6:p.Phe377del | |
| ENST00000502585.1:n.371_373del | ||
| NM_054027.4:c.1129_1131del | NP_473368.1:p.Phe377del | |
| NM_054027.5:c.1129_1131del | NP_473368.1:p.Phe377del | |
| XM_017009644.2:c.1045_1047del | XP_016865133.1:p.Phe349del | |
| NM_054027.6:c.1129_1131del MANE Select | NP_473368.1:p.Phe377del |