Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848855_35848857dup , CM000681.2:g.35848855_35848857dup | GRCh38 |
| NC_000019.9:g.36339757_36339759dup , CM000681.1:g.36339757_36339759dup | GRCh37 |
| NC_000019.8:g.41031597_41031599dup | NCBI36 |
| NG_013356.2:g.25431_25433dup , LRG_693:g.25431_25433dup | |
| NG_051206.1:g.2221_2223dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1013-63_1013-61dup MANE Select | ENSP00000368190.4:n.1013-63_1013-61dup | |
| ENST00000353632.6:c.1013-63_1013-61dup | ENSP00000343634.5:n.1013-63_1013-61dup | |
| ENST00000378910.9:c.1013-63_1013-61dup | ENSP00000368190.4:n.1013-63_1013-61dup | |
| ENST00000592132.1:n.20-63_20-61dup | ||
| NM_004646.3:c.1013-63_1013-61dup , LRG_693t1:c.1013-63_1013-61dup | NP_004637.1:n.1013-63_1013-61dup | |
| NM_004646.4:c.1013-63_1013-61dup MANE Select | NP_004637.1:n.1013-63_1013-61dup |