Linked Data
dbSNP Id:
rs781806012
ExAC:
X:154088686 TTTCC / T
gnomAD v2:
X-154088686-TTTCC-T
gnomAD v3:
X-154860411-TTTCC-T
gnomAD v4:
X-154860411-TTTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860412_154860415del , CM000685.2:g.154860412_154860415del | GRCh38 |
| NC_000023.10:g.154088687_154088690del , CM000685.1:g.154088687_154088690del | GRCh37 |
| NC_000023.9:g.153741881_153741884del | NCBI36 |
| NG_011403.1:g.167309_167312del | |
| NG_011403.2:g.167309_167312del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6900+17_6900+20del MANE Select | ENSP00000353393.4:n.6900+17_6900+20del | |
| ENST00000644698.1:c.633+17_633+20del | ENSP00000495706.1:n.633+17_633+20del | |
| ENST00000330287.10:c.495+17_495+20del | ENSP00000327895.6:n.495+17_495+20del | |
| ENST00000360256.8:c.6900+17_6900+20del | ENSP00000353393.4:n.6900+17_6900+20del | |
| NM_000132.3:c.6900+17_6900+20del | NP_000123.1:n.6900+17_6900+20del | |
| NM_019863.2:c.495+17_495+20del | NP_063916.1:n.495+17_495+20del | |
| XM_011531126.1:c.6795+17_6795+20del | XP_011529428.1:n.6795+17_6795+20del | |
| NM_000132.4:c.6900+17_6900+20del MANE Select | NP_000123.1:n.6900+17_6900+20del | |
| NM_019863.3:c.495+17_495+20del | NP_063916.1:n.495+17_495+20del |