Linked Data
dbSNP Id:
rs1303145725
gnomAD v3:
X-135985378-A-AGCGGCG
gnomAD v4:
X-135985378-A-AGCGGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.135985388_135985393dup , CM000685.2:g.135985388_135985393dup | GRCh38 |
| NC_000023.10:g.135067547_135067552dup , CM000685.1:g.135067547_135067552dup | GRCh37 |
| NC_000023.9:g.134895213_134895218dup | NCBI36 |
| NG_017160.1:g.4962_4967dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370701.6:c.-146_-141dup | ENSP00000359735.1:n.-146_-141dup | |
| ENST00000636092.1:c.-56-215_-56-210dup | ENSP00000490406.1:n.-56-215_-56-210dup | |
| ENST00000636347.1:c.-35-236_-35-231dup | ENSP00000490648.1:n.-35-236_-35-231dup | |
| ENST00000637195.1:c.-35-236_-35-231dup | ENSP00000490330.1:n.-35-236_-35-231dup | |
| ENST00000637234.1:c.-56-215_-56-210dup | ENSP00000490527.1:n.-56-215_-56-210dup | |
| ENST00000637581.1:c.-56-215_-56-210dup | ENSP00000490731.1:n.-56-215_-56-210dup | |
| XM_006724726.3:c.-141_-136dup | XP_006724789.1:n.-141_-136dup | |
| XM_017029223.2:c.-56-215_-56-210dup | XP_016884712.1:n.-56-215_-56-210dup | |
| XM_017029224.1:c.-56-215_-56-210dup | XP_016884713.1:n.-56-215_-56-210dup | |
| NM_001400909.1:c.-35-236_-35-231dup | NP_001387838.1:n.-35-236_-35-231dup | |
| NM_001400910.1:c.-56-215_-56-210dup | NP_001387839.1:n.-56-215_-56-210dup | |
| NM_001400911.1:c.-56-215_-56-210dup | NP_001387840.1:n.-56-215_-56-210dup |