Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32404768_32404771del , CM000669.2:g.32404768_32404771del | GRCh38 |
| NC_000007.13:g.32444380_32444383del , CM000669.1:g.32444380_32444383del | GRCh37 |
| NC_000007.12:g.32410905_32410908del | NCBI36 |
| NG_051183.1:g.28456_28459del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000672256.1:c.310+23053_310+23056del | ENSP00000499831.1:n.310+23053_310+23056de... | |
| NM_001322059.1:c.310+23053_310+23056del | NP_001308988.1:n.310+23053_310+23056del | |
| NM_001322059.2:c.310+23053_310+23056del | NP_001308988.1:n.310+23053_310+23056del |