Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665808_39665814delinsTGATGCG , CM000679.2:g.39665808_39665814delinsTGATGCG | GRCh38 |
| NC_000017.10:g.37822061_37822067delinsTGATGCG , CM000679.1:g.37822061_37822067delinsTGATGCG | GRCh37 |
| NC_000017.9:g.35075587_35075593delinsTGATGCG | NCBI36 |
| NG_008892.1:g.5463_5469delinsTGATGCG , LRG_210:g.5463_5469delinsTGATGCG | |
| NG_042278.1:g.2828_2834delinsTGATGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.203_209delinsTGATGCG MANE Select | ENSP00000312624.2:p.Met68= | |
| ENST00000309889.2:c.203_209delinsTGATGCG | ENSP00000312624.2:p.Met68= | |
| ENST00000578283.1:c.174+29_174+35delinsTGATGCG | ENSP00000462787.1:n.174+29_174+35delinsTGATGCG | |
| NM_003673.3:c.203_209delinsTGATGCG , LRG_210t1:c.203_209delinsTGATGCG | NP_003664.1:p.Met68= | |
| NM_003673.4:c.203_209delinsTGATGCG MANE Select | NP_003664.1:p.Met68= |