Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673743_136673746del , CM000671.2:g.136673743_136673746del | GRCh38 |
| NC_000009.11:g.139568195_139568198del , CM000671.1:g.139568195_139568198del | GRCh37 |
| NC_000009.10:g.138688016_138688019del | NCBI36 |
| NG_008090.1:g.18714_18717del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.*6_*9del MANE Select | ENSP00000360761.2:n.*6_*9del | |
| ENST00000371694.7:c.*6_*9del | ENSP00000360759.3:n.*6_*9del | |
| ENST00000371696.6:c.*6_*9del | ENSP00000360761.2:n.*6_*9del | |
| ENST00000472820.1:n.771_774del | ||
| ENST00000538402.1:c.*6_*9del | ENSP00000438919.1:n.*6_*9del | |
| NM_001012727.1:c.*6_*9del | NP_001012745.1:n.*6_*9del | |
| NM_006412.3:c.*6_*9del | NP_006403.2:n.*6_*9del | |
| NM_006412.4:c.*6_*9del MANE Select | NP_006403.2:n.*6_*9del | |
| NM_001012727.2:c.*6_*9del | NP_001012745.1:n.*6_*9del |