Linked Data
gnomAD v4:
1-115768199-T-TCAGTATATATTCTCTGCATCCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768200_115768222dup , CM000663.2:g.115768200_115768222dup | GRCh38 |
| NC_000001.10:g.116310821_116310843dup , CM000663.1:g.116310821_116310843dup | GRCh37 |
| NC_000001.9:g.116112344_116112366dup | NCBI36 |
| NG_008802.1:g.5584_5606dup , LRG_404:g.5584_5606dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-43+86_-43+108dup | ENSP00000518226.1:n.-43+86_-43+108dup | |
| ENST00000261448.6:c.234+86_234+108dup MANE Select | ENSP00000261448.5:n.234+86_234+108dup | |
| ENST00000261448.5:c.234+86_234+108dup | ENSP00000261448.5:n.234+86_234+108dup | |
| NM_001232.3:c.234+86_234+108dup , LRG_404t1:c.234+86_234+108dup | NP_001223.2:n.234+86_234+108dup | |
| NM_001232.4:c.234+86_234+108dup MANE Select | NP_001223.2:n.234+86_234+108dup |