Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659818_31659819delinsCA , CM000683.2:g.31659818_31659819delinsCA | GRCh38 |
| NC_000021.8:g.33032131_33032132delinsCA , CM000683.1:g.33032131_33032132delinsCA | GRCh37 |
| NC_000021.7:g.31954002_31954003delinsCA | NCBI36 |
| NG_008689.1:g.5197_5198delinsCA , LRG_652:g.5197_5198delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.49_50delinsCA MANE Select | ENSP00000270142.7:p.Gly17His | |
| ENST00000270142.10:c.49_50delinsCA | ENSP00000270142.6:p.Gly17His | |
| ENST00000389995.4:c.15+34_15+35delinsCA | ENSP00000374645.4:n.15+34_15+35delinsCA | |
| ENST00000470944.1:n.110_111delinsCA | ||
| ENST00000476106.5:n.126_127delinsCA | ||
| NM_000454.4:c.49_50delinsCA , LRG_652t1:c.49_50delinsCA | NP_000445.1:p.Gly17His | |
| NM_000454.5:c.49_50delinsCA MANE Select | NP_000445.1:p.Gly17His |