Linked Data
gnomAD v4:
X-25007044-C-CCCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007047_25007050dup , CM000685.2:g.25007047_25007050dup | GRCh38 |
| NC_000023.10:g.25025164_25025167dup , CM000685.1:g.25025164_25025167dup | GRCh37 |
| NC_000023.9:g.24935085_24935088dup | NCBI36 |
| NG_008281.1:g.13901_13904dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1448+63_1448+66dup MANE Select | ENSP00000368332.4:n.1448+63_1448+66dup | |
| ENST00000637993.1:c.61+63_61+66dup | ||
| ENST00000379044.4:c.1448+63_1448+66dup | ENSP00000368332.4:n.1448+63_1448+66dup | |
| NM_139058.2:c.1448+63_1448+66dup | NP_620689.1:n.1448+63_1448+66dup | |
| NM_139058.3:c.1448+63_1448+66dup MANE Select | NP_620689.1:n.1448+63_1448+66dup |