Linked Data
dbSNP Id:
rs546815968
gnomAD v2:
X-107683175-CCTT-C
gnomAD v3:
X-108439945-CCTT-C
gnomAD v4:
X-108439945-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108439958_108439960del , CM000685.2:g.108439958_108439960del | GRCh38 |
| NC_000023.10:g.107683188_107683190del , CM000685.1:g.107683188_107683190del | GRCh37 |
| NC_000023.9:g.107569844_107569846del | NCBI36 |
| NG_011977.1:g.5035_5037del | |
| NG_012059.2:g.4527_4529del | |
| NG_011977.2:g.5035_5037del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.-168_-166del MANE Select | ENSP00000331902.7:n.-168_-166del | |
| ENST00000361603.7:c.-168_-166del | ENSP00000354505.2:n.-168_-166del | |
| ENST00000642185.1:c.-168_-166del | ENSP00000495101.1:n.-168_-166del | |
| ENST00000328300.10:c.-168_-166del | ENSP00000331902.6:n.-168_-166del | |
| ENST00000361603.6:c.-168_-166del | ENSP00000354505.2:n.-168_-166del | |
| ENST00000470339.1:n.17_19del | ||
| ENST00000477429.1:n.115_117del | ||
| NM_000495.4:c.-168_-166del | NP_000486.1:n.-168_-166del | |
| NM_033380.2:c.-168_-166del | NP_203699.1:n.-168_-166del | |
| XM_005262070.2:c.-168_-166del | XP_005262127.1:n.-168_-166del | |
| XM_005262072.3:c.-168_-166del | XP_005262129.1:n.-168_-166del | |
| XM_006724616.2:c.-120-48_-120-46del | XP_006724679.1:n.-120-48_-120-46del | |
| XM_011530850.1:c.-168_-166del | XP_011529152.1:n.-168_-166del | |
| NM_000495.5:c.-168_-166del | NP_000486.1:n.-168_-166del | |
| NM_033380.3:c.-168_-166del MANE Select | NP_203699.1:n.-168_-166del |