Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65238389_65238393del , CM000674.2:g.65238389_65238393del | GRCh38 |
| NC_000012.11:g.65632169_65632173del , CM000674.1:g.65632169_65632173del | GRCh37 |
| NC_000012.10:g.63918436_63918440del | NCBI36 |
| NG_016210.1:g.73819_73823del | |
| NG_016210.2:g.73819_73823del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1696-113_1696-109del MANE Select | ENSP00000308369.2:n.1696-113_1696-109del | |
| ENST00000308330.2:c.1696-113_1696-109del | ENSP00000308369.2:n.1696-113_1696-109del | |
| NM_001167614.1:c.1693-113_1693-109del | NP_001161086.1:n.1693-113_1693-109del | |
| NM_014319.4:c.1696-113_1696-109del | NP_055134.2:n.1696-113_1696-109del | |
| NM_014319.5:c.1696-113_1696-109del MANE Select | NP_055134.2:n.1696-113_1696-109del | |
| NM_001167614.2:c.1693-113_1693-109del | NP_001161086.1:n.1693-113_1693-109del |