Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101425601_101426915del , CM000671.2:g.101425601_101426915del | GRCh38 |
| NC_000009.11:g.104187883_104189197del , CM000671.1:g.104187883_104189197del | GRCh37 |
| NC_000009.10:g.103227704_103229018del | NCBI36 |
| NG_012387.1:g.13866_15180del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.541-277_651del | ||
| ENST00000648064.1:c.541-277_651del | ||
| ENST00000648758.1:c.541-277_651del | ||
| ENST00000649902.1:c.541-277_651del | ||
| ENST00000374855.8:c.541-277_651del | ||
| ENST00000468981.3:n.68-277_178del | ||
| ENST00000616752.1:c.541-277_651del | ||
| NM_000035.3:c.541-277_651del | ||
| NM_000035.4:c.541-277_651del |