Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188996495_188996508delinsATGTGAGTTCCTTC , CM000664.2:g.188996495_188996508delinsATGTGAGTTCCTTC | GRCh38 |
| NC_000002.11:g.189861221_189861234delinsATGTGAGTTCCTTC , CM000664.1:g.189861221_189861234delinsATGTGAGTTCCTTC | GRCh37 |
| NC_000002.10:g.189569466_189569479delinsATGTGAGTTCCTTC | NCBI36 |
| NG_007404.1:g.27123_27136delinsATGTGAGTTCCTTC , LRG_3:g.27123_27136delinsATGTGAGTTCCTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1661_1662+12delinsATGTGAGTTCCTTC | ||
| ENST00000304636.9:c.1760_1761+12delinsATGTGAGTTCCTTC | ||
| ENST00000304636.7:c.1760_1761+12delinsATGTGAGTTCCTTC | ||
| ENST00000317840.9:c.1760_1761+12delinsATGTGAGTTCCTTC | ||
| NM_000090.3:c.1760_1761+12delinsATGTGAGTTCCTTC , LRG_3t1:c.1760_1761+12delinsATGTGAGTTCCTTC | ||
| NM_000090.4:c.1760_1761+12delinsATGTGAGTTCCTTC |