Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988923_94988924insGTTCAT , CM000672.2:g.94988923_94988924insGTTCAT | GRCh38 |
| NC_000010.10:g.96748680_96748681insGTTCAT , CM000672.1:g.96748680_96748681insGTTCAT | GRCh37 |
| NC_000010.9:g.96738670_96738671insGTTCAT | NCBI36 |
| NG_008385.1:g.55266_55267insGTTCAT | |
| NG_008385.2:g.55766_55767insGTTCAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.1368_1369insGTTCAT MANE Select | ENSP00000260682.6:p.Phe456_Asn457insValHi... | |
| ENST00000643112.1:c.*377_*378insGTTCAT | ENSP00000496202.1:n.*377_*378insGTTCAT | |
| ENST00000260682.6:c.1368_1369insGTTCAT | ENSP00000260682.6:p.Phe456_Asn457insValHi... | |
| NM_000771.3:c.1368_1369insGTTCAT | NP_000762.2:p.Phe456_Asn457insValHis | |
| NM_000771.4:c.1368_1369insGTTCAT MANE Select | NP_000762.2:p.Phe456_Asn457insValHis |