Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762714_94762724delinsTTTTGTGGTCC , CM000672.2:g.94762714_94762724delinsTTTTGTGGTCC | GRCh38 |
| NC_000010.10:g.96522471_96522481delinsTTTTGTGGTCC , CM000672.1:g.96522471_96522481delinsTTTTGTGGTCC | GRCh37 |
| NC_000010.9:g.96512461_96512471delinsTTTTGTGGTCC | NCBI36 |
| NG_008384.2:g.5009_5019delinsTTTTGTGGTCC | |
| NG_008384.3:g.5034_5044delinsTTTTGTGGTCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.9_19delinsTTTTGTGGTCC MANE Select | ENSP00000360372.3:p.Pro3= | |
| ENST00000371321.7:c.9_19delinsTTTTGTGGTCC | ENSP00000360372.3:p.Pro3= | |
| ENST00000464755.1:c.932-12344_932-12334delinsTTTTGTGGTCC | ENSP00000483243.1:n.932-12344_932-12334de... | |
| ENST00000480405.2:c.9_19delinsTTTTGTGGTCC | ENSP00000483847.1:p.Pro3= | |
| NM_000769.2:c.9_19delinsTTTTGTGGTCC | NP_000760.1:p.Pro3= | |
| NM_000769.4:c.9_19delinsTTTTGTGGTCC MANE Select | NP_000760.1:p.Pro3= |