Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169572443_169572444del , CM000663.2:g.169572443_169572444del | GRCh38 |
| NC_000001.10:g.169541681_169541682del , CM000663.1:g.169541681_169541682del | GRCh37 |
| NC_000001.9:g.167808305_167808306del | NCBI36 |
| NG_011806.1:g.19088_19089del , LRG_553:g.19088_19089del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.251-101_251-100del MANE Select | ENSP00000356771.3:n.251-101_251-100del | |
| ENST00000367796.3:c.251-101_251-100del | ENSP00000356770.3:n.251-101_251-100del | |
| ENST00000367797.7:c.251-101_251-100del | ENSP00000356771.3:n.251-101_251-100del | |
| NM_000130.4:c.251-101_251-100del , LRG_553t1:c.251-101_251-100del | NP_000121.2:n.251-101_251-100del | |
| XM_017000660.2:c.-161-101_-161-100del | XP_016856149.1:n.-161-101_-161-100del | |
| NM_000130.5:c.251-101_251-100del MANE Select | NP_000121.2:n.251-101_251-100del |