Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111602_118111606delinsCTCTT , CM000670.2:g.118111602_118111606delinsCTCTT | GRCh38 |
| NC_000008.10:g.119123841_119123845delinsCTCTT , CM000670.1:g.119123841_119123845delinsCTCTT | GRCh37 |
| NC_000008.9:g.119193022_119193026delinsCTCTT | NCBI36 |
| NG_007455.2:g.5214_5218delinsAAGAG , LRG_493:g.5214_5218delinsAAGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-560_-556delinsAAGAG MANE Select | ENSP00000367446.3:n.-560_-556delinsAAGAG | |
| ENST00000378204.6:c.-560_-556delinsAAGAG | ENSP00000367446.2:n.-560_-556delinsAAGAG | |
| NM_000127.2:c.-560_-556delinsAAGAG , LRG_493t1:c.-560_-556delinsAAGAG | NP_000118.2:n.-560_-556delinsAAGAG | |
| NM_000127.3:c.-560_-556delinsAAGAG MANE Select | NP_000118.2:n.-560_-556delinsAAGAG |