Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097335_40097339del , CM000663.2:g.40097335_40097339del | GRCh38 |
| NC_000001.10:g.40563007_40563011del , CM000663.1:g.40563007_40563011del | GRCh37 |
| NC_000001.9:g.40335594_40335598del | NCBI36 |
| NG_009192.1:g.5132_5136del , LRG_690:g.5132_5136del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-101_-97del | ENSP00000394863.3:n.-101_-97del | |
| NM_000310.3:c.-101_-97del , LRG_690t1:c.-101_-97del | NP_000301.1:n.-101_-97del | |
| NM_001142604.1:c.-101_-97del | NP_001136076.1:n.-101_-97del | |
| NM_001363695.1:c.-101_-97del | NP_001350624.1:n.-101_-97del |