Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30594754_30594755delinsGT , CM000669.2:g.30594754_30594755delinsGT | GRCh38 |
| NC_000007.13:g.30634370_30634371delinsGT , CM000669.1:g.30634370_30634371delinsGT | GRCh37 |
| NC_000007.12:g.30600895_30600896delinsGT | NCBI36 |
| NG_007942.1:g.5190_5191delinsGT , LRG_243:g.5190_5191delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675051.1:c.22-4042_22-4041delinsGT | ENSP00000502296.1:n.22-4042_22-4041delins... | |
| ENST00000389266.7:c.-168_-167delinsGT | ENSP00000373918.3:n.-168_-167delinsGT | |
| NM_001316772.1:c.-330_-329delinsGT | NP_001303701.1:n.-330_-329delinsGT | |
| NM_002047.2:c.-168_-167delinsGT , LRG_243t1:c.-168_-167delinsGT | NP_002038.2:n.-168_-167delinsGT |