Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119670121_119670122delinsCA , CM000672.2:g.119670121_119670122delinsCA | GRCh38 |
| NC_000010.10:g.121429633_121429634delinsCA , CM000672.1:g.121429633_121429634delinsCA | GRCh37 |
| NC_000010.9:g.121419623_121419624delinsCA | NCBI36 |
| NG_016125.1:g.23752_23753delinsCA , LRG_742:g.23752_23753delinsCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.451_452delinsCA MANE Select | ENSP00000358081.4:p.Cys151His | |
| ENST00000369085.7:c.451_452delinsCA | ENSP00000358081.3:p.Cys151His | |
| ENST00000450186.1:c.277_278delinsCA | ENSP00000410036.1:p.Cys93His | |
| NM_004281.3:c.451_452delinsCA , LRG_742t1:c.451_452delinsCA | NP_004272.2:p.Cys151His | |
| XM_005270287.1:c.451_452delinsCA | XP_005270344.1:p.Cys151His | |
| XM_005270287.2:c.451_452delinsCA | XP_005270344.1:p.Cys151His | |
| NM_004281.4:c.451_452delinsCA MANE Select | NP_004272.2:p.Cys151His |