Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101426493_101432940del , CM000671.2:g.101426493_101432940del | GRCh38 |
| NC_000009.11:g.104188775_104195222del , CM000671.1:g.104188775_104195222del | GRCh37 |
| NC_000009.10:g.103228596_103235043del | NCBI36 |
| NG_012387.1:g.7841_14288del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.-10-2043_624+62del | ||
| ENST00000648064.1:c.-10-2043_624+62del | ||
| ENST00000648758.1:c.-10-2043_624+62del | ||
| ENST00000374855.8:c.-10-2043_624+62del | ||
| ENST00000616752.1:c.-10-2043_624+62del | ||
| NM_000035.3:c.-10-2043_624+62del | ||
| NM_000035.4:c.-10-2043_624+62del |