Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601797_110601799del , CM000672.2:g.110601797_110601799del | GRCh38 |
| NC_000010.10:g.112361555_112361557del , CM000672.1:g.112361555_112361557del | GRCh37 |
| NC_000010.9:g.112351545_112351547del | NCBI36 |
| NG_012217.1:g.39107_39109del , LRG_774:g.39107_39109del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5038_5040del | ||
| ENST00000685743.1:n.2513_2515del | ||
| ENST00000686057.1:n.1156_1158del | ||
| ENST00000689321.1:n.1768_1770del | ||
| ENST00000689986.1:n.594_596del | ||
| ENST00000361804.5:c.2805_2807del MANE Select | ENSP00000354720.5:p.Lys936del | |
| ENST00000361804.4:c.2805_2807del | ENSP00000354720.4:p.Lys936del | |
| NM_005445.3:c.2805_2807del , LRG_774t1:c.2805_2807del | NP_005436.1:p.Lys936del | |
| NM_005445.4:c.2805_2807del MANE Select | NP_005436.1:p.Lys936del |