Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4860222_4860237delinsCGCCCTCTTCGCCGCG , CM000666.2:g.4860222_4860237delinsCGCCCTCTTCGCCGCG | GRCh38 |
| NC_000004.11:g.4861949_4861964delinsCGCCCTCTTCGCCGCG , CM000666.1:g.4861949_4861964delinsCGCCCTCTTCGCCGCG | GRCh37 |
| NC_000004.10:g.4912850_4912865delinsCGCCCTCTTCGCCGCG | NCBI36 |
| NG_008121.1:g.5558_5573delinsCGCCCTCTTCGCCGCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382723.5:c.323_338delinsCGCCCTCTTCGCCGCG MANE Select | ENSP00000372170.4:p.Ala108= | |
| ENST00000382723.4:c.323_338delinsCGCCCTCTTCGCCGCG | ENSP00000372170.4:p.Ala108= | |
| NM_002448.3:c.323_338delinsCGCCCTCTTCGCCGCG MANE Select | NP_002439.2:p.Ala108= |