Linked Data
gnomAD v4:
3-87259828-C-CTGTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87259830_87259833dup , CM000665.2:g.87259830_87259833dup | GRCh38 |
| NC_000003.11:g.87308980_87308983dup , CM000665.1:g.87308980_87308983dup | GRCh37 |
| NC_000003.10:g.87391670_87391673dup | NCBI36 |
| NG_008225.2:g.21756_21759dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.*62_*65dup | ENSP00000342931.3:n.*62_*65dup | |
| ENST00000350375.7:c.*62_*65dup MANE Select | ENSP00000263781.2:n.*62_*65dup | |
| ENST00000344265.7:c.*62_*65dup | ENSP00000342931.3:n.*62_*65dup | |
| ENST00000350375.6:c.*62_*65dup | ENSP00000263781.2:n.*62_*65dup | |
| NM_000306.3:c.*62_*65dup | NP_000297.1:n.*62_*65dup | |
| NM_001122757.2:c.*62_*65dup | NP_001116229.1:n.*62_*65dup | |
| NM_000306.4:c.*62_*65dup MANE Select | NP_000297.1:n.*62_*65dup | |
| NM_001122757.3:c.*62_*65dup | NP_001116229.1:n.*62_*65dup |