Linked Data
dbSNP Id:
rs2068533318
gnomAD v3:
X-108685902-CTTCTTT-C
gnomAD v4:
X-108685902-CTTCTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108685905_108685910del , CM000685.2:g.108685905_108685910del | GRCh38 |
| NC_000023.10:g.107929135_107929140del , CM000685.1:g.107929135_107929140del | GRCh37 |
| NC_000023.9:g.107815791_107815796del | NCBI36 |
| NG_011977.1:g.250982_250987del | |
| NG_011977.2:g.250982_250987del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4217-126_4217-121del MANE Select | ENSP00000331902.7:n.4217-126_4217-121del | |
| ENST00000361603.7:c.4199-126_4199-121del | ENSP00000354505.2:n.4199-126_4199-121del | |
| ENST00000510690.2:n.711-126_711-121del | ||
| ENST00000328300.10:c.4217-126_4217-121del | ENSP00000331902.6:n.4217-126_4217-121del | |
| ENST00000361603.6:c.4199-126_4199-121del | ENSP00000354505.2:n.4199-126_4199-121del | |
| ENST00000489230.1:n.620-126_620-121del | ||
| ENST00000515658.1:c.13-126_13-121del | ||
| NM_000495.4:c.4199-126_4199-121del | NP_000486.1:n.4199-126_4199-121del | |
| NM_033380.2:c.4217-126_4217-121del | NP_203699.1:n.4217-126_4217-121del | |
| XM_005262070.2:c.4208-126_4208-121del | XP_005262127.1:n.4208-126_4208-121del | |
| XM_006724616.2:c.4217-126_4217-121del | XP_006724679.1:n.4217-126_4217-121del | |
| XM_011530849.1:c.3893-126_3893-121del | XP_011529151.1:n.3893-126_3893-121del | |
| XM_011530851.1:c.1790-126_1790-121del | XP_011529153.1:n.1790-126_1790-121del | |
| XM_011530849.2:c.4232-126_4232-121del | XP_011529151.2:n.4232-126_4232-121del | |
| XM_017029259.2:c.4223-126_4223-121del | XP_016884748.1:n.4223-126_4223-121del | |
| XM_017029260.1:c.4214-126_4214-121del | XP_016884749.1:n.4214-126_4214-121del | |
| XM_017029263.2:c.2552-126_2552-121del | XP_016884752.1:n.2552-126_2552-121del | |
| NM_000495.5:c.4199-126_4199-121del | NP_000486.1:n.4199-126_4199-121del | |
| NM_033380.3:c.4217-126_4217-121del MANE Select | NP_203699.1:n.4217-126_4217-121del |