ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101425634_101425636dup , CM000671.2:g.101425634_101425636dup | GRCh38 |
| NC_000009.11:g.104187916_104187918dup , CM000671.1:g.104187916_104187918dup | GRCh37 |
| NC_000009.10:g.103227737_103227739dup | NCBI36 |
| NG_012387.1:g.15145_15147dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.625-9_625-7dup MANE Select | ENSP00000497767.1:n.625-9_625-7dup | |
| ENST00000648064.1:c.625-9_625-7dup | ENSP00000497990.1:n.625-9_625-7dup | |
| ENST00000648758.1:c.625-9_625-7dup | ENSP00000497731.1:n.625-9_625-7dup | |
| ENST00000649902.1:c.625-9_625-7dup | ENSP00000497216.1:n.625-9_625-7dup | |
| ENST00000374855.8:c.625-9_625-7dup | ENSP00000363988.4:n.625-9_625-7dup | |
| ENST00000468981.3:n.152-9_152-7dup | ||
| ENST00000616752.1:c.625-9_625-7dup | ENSP00000481363.1:n.625-9_625-7dup | |
| NM_000035.3:c.625-9_625-7dup | NP_000026.2:n.625-9_625-7dup | |
| NM_000035.4:c.625-9_625-7dup MANE Select | NP_000026.2:n.625-9_625-7dup |