Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994074_188994103delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA , CM000664.2:g.188994074_188994103delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA | GRCh38 |
| NC_000002.11:g.189858800_189858829delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA , CM000664.1:g.189858800_189858829delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA | GRCh37 |
| NC_000002.10:g.189567045_189567074delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA | NCBI36 |
| NG_007404.1:g.24702_24731delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA , LRG_3:g.24702_24731delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1087_1095+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA | ||
| ENST00000304636.9:c.1186_1194+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA | ||
| ENST00000304636.7:c.1186_1194+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA | ||
| ENST00000317840.9:c.1186_1194+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA | ||
| ENST00000450867.1:c.185_193+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA | ||
| NM_000090.3:c.1186_1194+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA , LRG_3t1:c.1186_1194+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA | ||
| NM_000090.4:c.1186_1194+21delinsGGCGAAATGGTAAGCTGTCCCCACTCCTCA |