Linked Data
gnomAD v4:
X-153736275-C-CCCTTGCCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736285_153736293dup , CM000685.2:g.153736285_153736293dup | GRCh38 |
| NC_000023.10:g.153001739_153001747dup , CM000685.1:g.153001739_153001747dup | GRCh37 |
| NC_000023.9:g.152654933_152654941dup | NCBI36 |
| NG_009022.2:g.16418_16426dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1224+31_1224+39dup MANE Select | ENSP00000218104.3:n.1224+31_1224+39dup | |
| ENST00000218104.5:c.1224+31_1224+39dup | ENSP00000218104.3:n.1224+31_1224+39dup | |
| ENST00000443684.2:n.227+31_227+39dup | ||
| NM_000033.3:c.1224+31_1224+39dup | NP_000024.2:n.1224+31_1224+39dup | |
| XR_938507.1:n.1640+31_1640+39dup | ||
| XR_938507.2:n.1640+31_1640+39dup | ||
| NM_000033.4:c.1224+31_1224+39dup MANE Select | NP_000024.2:n.1224+31_1224+39dup |