Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745575_8745576delinsAC , CM000665.2:g.8745575_8745576delinsAC | GRCh38 |
| NC_000003.11:g.8787261_8787262delinsAC , CM000665.1:g.8787261_8787262delinsAC | GRCh37 |
| NC_000003.10:g.8762261_8762262delinsAC | NCBI36 |
| NG_008797.2:g.16766_16767delinsAC , LRG_329:g.16766_16767delinsAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.164_165delinsAC MANE Select | ENSP00000341940.2:p.Asp55= | |
| ENST00000343849.2:c.164_165delinsAC | ENSP00000341940.2:p.Asp55= | |
| ENST00000397368.2:c.164_165delinsAC | ENSP00000380525.2:p.Asp55= | |
| ENST00000472766.1:n.155+11585_155+11586delinsAC | ||
| NM_001234.4:c.164_165delinsAC | NP_001225.1:p.Asp55= | |
| NM_033337.2:c.164_165delinsAC , LRG_329t1:c.164_165delinsAC | NP_203123.1:p.Asp55= | |
| NM_001234.5:c.164_165delinsAC | NP_001225.1:p.Asp55= | |
| NM_033337.3:c.164_165delinsAC MANE Select | NP_203123.1:p.Asp55= |