Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721827_42721830delinsCGTT , CM000668.2:g.42721827_42721830delinsCGTT | GRCh38 |
| NC_000006.11:g.42689565_42689568delinsCGTT , CM000668.1:g.42689565_42689568delinsCGTT | GRCh37 |
| NC_000006.10:g.42797543_42797546delinsCGTT | NCBI36 |
| NG_009176.1:g.5791_5794delinsAACG | |
| NG_009176.2:g.5791_5794delinsAACG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.505_508delinsAACG MANE Select | ENSP00000230381.5:p.Asn169= | |
| ENST00000230381.6:c.505_508delinsAACG | ENSP00000230381.5:p.Asn169= | |
| NM_000322.4:c.505_508delinsAACG | NP_000313.2:p.Asn169= | |
| XR_427834.2:n.1160_1163delinsAACG | ||
| XR_926295.1:n.1160_1163delinsAACG | ||
| XR_427834.4:n.1210_1213delinsAACG | ||
| XR_926295.3:n.1210_1213delinsAACG | ||
| NM_000322.5:c.505_508delinsAACG MANE Select | NP_000313.2:p.Asn169= |