Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226955_5226969delinsCATCCACGTTCACCT , CM000673.2:g.5226955_5226969delinsCATCCACGTTCACCT | GRCh38 |
| NC_000011.9:g.5248185_5248199delinsCATCCACGTTCACCT , CM000673.1:g.5248185_5248199delinsCATCCACGTTCACCT | GRCh37 |
| NC_000011.8:g.5204761_5204775delinsCATCCACGTTCACCT | NCBI36 |
| NG_000007.3:g.70647_70661delinsAGGTGAACGTGGATG | |
| NG_059281.1:g.5103_5117delinsAGGTGAACGTGGATG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.53_67delinsAGGTGAACGTGGATG | ENSP00000494175.1:p.Lys18= | |
| ENST00000335295.4:c.53_67delinsAGGTGAACGTGGATG MANE Select | ENSP00000333994.3:p.Lys18= | |
| ENST00000380315.2:c.53_67delinsAGGTGAACGTGGATG | ENSP00000369671.2:p.Lys18= | |
| ENST00000485743.1:n.104_118delinsAGGTGAACGTGGATG | ||
| ENST00000633227.1:c.53_67delinsAGGTGAACGTGGATG | ENSP00000488004.1:p.Lys18= | |
| NM_000518.4:c.53_67delinsAGGTGAACGTGGATG | NP_000509.1:p.Lys18= | |
| NM_000518.5:c.53_67delinsAGGTGAACGTGGATG MANE Select | NP_000509.1:p.Lys18= |