Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421805_101421806delinsGA , CM000671.2:g.101421805_101421806delinsGA | GRCh38 |
| NC_000009.11:g.104184087_104184088delinsGA , CM000671.1:g.104184087_104184088delinsGA | GRCh37 |
| NC_000009.10:g.103223908_103223909delinsGA | NCBI36 |
| NG_012387.1:g.18975_18976delinsTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.*3_*4delinsTC MANE Select | ENSP00000497767.1:n.*3_*4delinsTC | |
| ENST00000648064.1:c.*3_*4delinsTC | ENSP00000497990.1:n.*3_*4delinsTC | |
| ENST00000648758.1:c.*3_*4delinsTC | ENSP00000497731.1:n.*3_*4delinsTC | |
| ENST00000374855.8:c.*3_*4delinsTC | ENSP00000363988.4:n.*3_*4delinsTC | |
| ENST00000616752.1:c.*110_*111delinsTC | ENSP00000481363.1:n.*110_*111delinsTC | |
| NM_000035.3:c.*3_*4delinsTC | NP_000026.2:n.*3_*4delinsTC | |
| NM_000035.4:c.*3_*4delinsTC MANE Select | NP_000026.2:n.*3_*4delinsTC |