Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567194_137567201delinsAGGGCGCT , CM000685.2:g.137567194_137567201delinsAGGGCGCT | GRCh38 |
| NC_000023.10:g.136649353_136649360delinsAGGGCGCT , CM000685.1:g.136649353_136649360delinsAGGGCGCT | GRCh37 |
| NC_000023.9:g.136477019_136477026delinsAGGGCGCT | NCBI36 |
| NG_008115.1:g.6008_6015delinsAGGGCGCT | |
| NG_008115.2:g.6068_6075delinsAGGGCGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.503_510delinsAGGGCGCT MANE Select | ENSP00000287538.5:p.Gln168= | |
| ENST00000287538.9:c.503_510delinsAGGGCGCT | ENSP00000287538.5:p.Gln168= | |
| ENST00000370606.3:c.503_510delinsAGGGCGCT | ENSP00000359638.3:p.Gln168= | |
| NM_003413.3:c.503_510delinsAGGGCGCT | NP_003404.1:p.Gln168= | |
| NM_001330661.1:c.503_510delinsAGGGCGCT | NP_001317590.1:p.Gln168= | |
| NM_003413.4:c.503_510delinsAGGGCGCT MANE Select | NP_003404.1:p.Gln168= |