Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562885_57562886delinsCT , CM000682.2:g.57562885_57562886delinsCT | GRCh38 |
| NC_000020.10:g.56137941_56137942delinsCT , CM000682.1:g.56137941_56137942delinsCT | GRCh37 |
| NC_000020.9:g.55571347_55571348delinsCT | NCBI36 |
| NG_008205.1:g.6805_6806delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.596_597delinsCT MANE Select | ENSP00000319814.4:p.Pro199= | |
| ENST00000319441.5:c.596_597delinsCT | ENSP00000319814.4:p.Pro199= | |
| ENST00000467047.1:n.1806_1807delinsCT | ||
| ENST00000470051.1:n.52_53delinsCT | ||
| ENST00000498194.1:n.538_539delinsCT | ||
| NM_002591.3:c.596_597delinsCT | NP_002582.3:p.Pro199= | |
| XM_011528839.1:c.200_201delinsCT | XP_011527141.1:p.Pro67= | |
| XM_024451888.1:c.200_201delinsCT | XP_024307656.1:p.Pro67= | |
| NM_002591.4:c.596_597delinsCT MANE Select | NP_002582.3:p.Pro199= |