Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117478804_117478805delinsCA , CM000669.2:g.117478804_117478805delinsCA | GRCh38 |
| NC_000007.13:g.117118858_117118859delinsCA , CM000669.1:g.117118858_117118859delinsCA | GRCh37 |
| NC_000007.12:g.116906094_116906095delinsCA | NCBI36 |
| NG_016465.4:g.18021_18022delinsCA , LRG_663:g.18021_18022delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-526+382_-526+383delinsCA | ENSP00000417012.1:n.-526+382_-526+383delinsCA | |
| ENST00000673785.1:c.-406+12973_-406+12974delinsCA | ENSP00000501235.1:n.-406+12973_-406+12974delinsCA | |
| ENST00000546407.1:n.166+2996_166+2997delinsCA | ||
| XM_011515751.1:c.41+382_41+383delinsCA | XP_011514053.1:n.41+382_41+383delinsCA | |
| XM_011515752.1:c.41+382_41+383delinsCA | XP_011514054.1:n.41+382_41+383delinsCA | |
| XM_011515754.1:c.-1293_-1292delinsCA | XP_011514056.1:n.-1293_-1292delinsCA |