Linked Data
dbSNP Id:
rs772508444
gnomAD v2:
X-107683125-TCTC-T
gnomAD v3:
X-108439895-TCTC-T
gnomAD v4:
X-108439895-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108439898_108439900del , CM000685.2:g.108439898_108439900del | GRCh38 |
| NC_000023.10:g.107683128_107683130del , CM000685.1:g.107683128_107683130del | GRCh37 |
| NC_000023.9:g.107569784_107569786del | NCBI36 |
| NG_011977.1:g.4975_4977del | |
| NG_012059.2:g.4577_4579del | |
| NG_011977.2:g.4975_4977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.-228_-226del MANE Select | ENSP00000331902.7:n.-228_-226del | |
| ENST00000328300.10:c.-228_-226del | ENSP00000331902.6:n.-228_-226del | |
| ENST00000361603.6:c.-228_-226del | ENSP00000354505.2:n.-228_-226del | |
| ENST00000477429.1:n.55_57del | ||
| NM_000495.4:c.-228_-226del | NP_000486.1:n.-228_-226del | |
| NM_033380.2:c.-228_-226del | NP_203699.1:n.-228_-226del | |
| XM_005262070.2:c.-228_-226del | XP_005262127.1:n.-228_-226del | |
| XM_005262072.3:c.-228_-226del | XP_005262129.1:n.-228_-226del | |
| XM_006724616.2:c.-121+103_-120-106del | XP_006724679.1:n.-121+103_-120-106del | |
| XM_011530850.1:c.-228_-226del | XP_011529152.1:n.-228_-226del | |
| NM_000495.5:c.-228_-226del | NP_000486.1:n.-228_-226del | |
| NM_033380.3:c.-228_-226del MANE Select | NP_203699.1:n.-228_-226del |