Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417094_23417096delinsGCA , CM000678.2:g.23417094_23417096delinsGCA | GRCh38 |
| NC_000016.9:g.23428415_23428417delinsGCA , CM000678.1:g.23428415_23428417delinsGCA | GRCh37 |
| NC_000016.8:g.23335916_23335918delinsGCA | NCBI36 |
| NG_021287.1:g.41096_41098delinsTGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1163_1165delinsTGC MANE Select | ENSP00000305442.5:p.Val388= | |
| ENST00000307149.9:c.1163_1165delinsTGC | ENSP00000305442.5:p.Val388= | |
| ENST00000567821.1:n.198_200delinsTGC | ||
| NM_153603.3:c.1163_1165delinsTGC | NP_705831.1:p.Val388= | |
| XR_429680.1:n.1379_1381delinsTGC | ||
| XM_017023870.1:c.968_970delinsTGC | XP_016879359.1:p.Val323= | |
| XR_002957852.1:n.1384_1386delinsTGC | ||
| XR_429680.2:n.1384_1386delinsTGC | ||
| NM_153603.4:c.1163_1165delinsTGC MANE Select | NP_705831.1:p.Val388= |