Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602153_110602156del , CM000672.2:g.110602153_110602156del | GRCh38 |
| NC_000010.10:g.112361911_112361914del , CM000672.1:g.112361911_112361914del | GRCh37 |
| NC_000010.9:g.112351901_112351904del | NCBI36 |
| NG_012217.1:g.39463_39466del , LRG_774:g.39463_39466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5313_5316del | ||
| ENST00000685743.1:n.2788_2791del | ||
| ENST00000686057.1:n.1431_1434del | ||
| ENST00000689321.1:n.2043_2046del | ||
| ENST00000689986.1:n.869_872del | ||
| ENST00000361804.5:c.3080_3083del MANE Select | ENSP00000354720.5:p.Glu1027ValfsTer4 | |
| ENST00000361804.4:c.3080_3083del | ENSP00000354720.4:p.Glu1027ValfsTer4 | |
| NM_005445.3:c.3080_3083del , LRG_774t1:c.3080_3083del | NP_005436.1:p.Glu1027ValfsTer4 | |
| NM_005445.4:c.3080_3083del MANE Select | NP_005436.1:p.Glu1027ValfsTer4 |