Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116920_19116922del , CM000669.2:g.19116920_19116922del | GRCh38 |
| NC_000007.13:g.19156543_19156545del , CM000669.1:g.19156543_19156545del | GRCh37 |
| NC_000007.12:g.19123068_19123070del | NCBI36 |
| NG_008114.1:g.5754_5756del | |
| NG_008114.2:g.5754_5756del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.403_405del MANE Select | ENSP00000242261.5:p.Ile135del | |
| ENST00000242261.5:c.403_405del | ENSP00000242261.5:p.Ile135del | |
| ENST00000354571.5:c.200_202del | ||
| ENST00000443687.5:c.6_8del | ||
| NM_000474.3:c.403_405del | NP_000465.1:p.Ile135del | |
| XM_011515496.1:c.403_405del | XP_011513798.1:p.Ile135del | |
| NR_149001.1:n.754_756del | ||
| NM_000474.4:c.403_405del MANE Select | NP_000465.1:p.Ile135del | |
| NR_149001.2:n.718_720del |