Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.143536484_143536489del , CM000666.2:g.143536484_143536489del | GRCh38 |
| NC_000004.11:g.144457637_144457642del , CM000666.1:g.144457637_144457642del | GRCh37 |
| NC_000004.10:g.144677087_144677092del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003601.4:c.1301_1306del MANE Select | NP_003592.3:p.Ile434_Leu435del |
| ENST00000283131.4:c.1301_1306del MANE Select | ENSP00000283131.3:p.Ile434_Leu435del |
| NM_003601.3:c.1301_1306del | NP_003592.3:p.Ile434_Leu435del |
| ENST00000283131.3:c.1301_1306del | ENSP00000283131.3:p.Ile434_Leu435del |
| XM_011532361.1:c.1301_1306del | XP_011530663.1:p.Ile434_Leu435del |
| XR_001741338.1:n.1725_1730del |