Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202376528_202376529delinsAT , CM000664.2:g.202376528_202376529delinsAT | GRCh38 |
| NC_000002.11:g.203241251_203241252delinsAT , CM000664.1:g.203241251_203241252delinsAT | GRCh37 |
| NC_000002.10:g.202949496_202949497delinsAT | NCBI36 |
| NG_009363.1:g.5202_5203delinsAT , LRG_712:g.5202_5203delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.-947_-946delinsAT MANE Select | ENSP00000363708.4:n.-947_-946delinsAT | |
| NM_001204.6:c.-947_-946delinsAT , LRG_712t1:c.-947_-946delinsAT | NP_001195.2:n.-947_-946delinsAT | |
| XM_011511687.1:c.-947_-946delinsAT | XP_011509989.1:n.-947_-946delinsAT | |
| XM_011511688.1:c.-947_-946delinsAT | XP_011509990.1:n.-947_-946delinsAT | |
| NM_001204.7:c.-947_-946delinsAT MANE Select | NP_001195.2:n.-947_-946delinsAT |