Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085779_186085780delinsTA , CM000666.2:g.186085779_186085780delinsTA | GRCh38 |
| NC_000004.11:g.187006933_187006934delinsTA , CM000666.1:g.187006933_187006934delinsTA | GRCh37 |
| NC_000004.10:g.187243927_187243928delinsTA | NCBI36 |
| NG_007278.1:g.21625_21626delinsTA , LRG_117:g.21625_21626delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3173_*3174delinsTA | ENSP00000513675.1:n.*3173_*3174delinsTA | |
| ENST00000698353.1:n.3496_3497delinsTA | ||
| ENST00000698354.1:c.*906_*907delinsTA | ENSP00000513676.1:n.*906_*907delinsTA | |
| ENST00000296795.8:c.*906_*907delinsTA MANE Select | ENSP00000296795.3:n.*906_*907delinsTA | |
| ENST00000296795.7:c.*906_*907delinsTA | ENSP00000296795.2:n.*906_*907delinsTA | |
| NM_003265.3:c.*906_*907delinsTA MANE Select | NP_003256.1:n.*906_*907delinsTA |