Linked Data
dbSNP Id:
rs1246373618
gnomAD v2:
X-107867254-CACT-C
gnomAD v3:
X-108624024-CACT-C
gnomAD v4:
X-108624024-CACT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108624028_108624030del , CM000685.2:g.108624028_108624030del | GRCh38 |
| NC_000023.10:g.107867258_107867260del , CM000685.1:g.107867258_107867260del | GRCh37 |
| NC_000023.9:g.107753914_107753916del | NCBI36 |
| NG_011977.1:g.189105_189107del | |
| NG_011977.2:g.189105_189107del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.2918-208_2918-206del MANE Select | ENSP00000331902.7:n.2918-208_2918-206del | |
| ENST00000361603.7:c.2918-208_2918-206del | ENSP00000354505.2:n.2918-208_2918-206del | |
| ENST00000328300.10:c.2918-208_2918-206del | ENSP00000331902.6:n.2918-208_2918-206del | |
| ENST00000361603.6:c.2918-208_2918-206del | ENSP00000354505.2:n.2918-208_2918-206del | |
| ENST00000483338.1:n.2374-208_2374-206del | ||
| ENST00000505728.1:c.151-208_151-206del | ||
| NM_000495.4:c.2918-208_2918-206del | NP_000486.1:n.2918-208_2918-206del | |
| NM_033380.2:c.2918-208_2918-206del | NP_203699.1:n.2918-208_2918-206del | |
| XM_005262070.2:c.2918-208_2918-206del | XP_005262127.1:n.2918-208_2918-206del | |
| XM_005262072.3:c.2918-208_2918-206del | XP_005262129.1:n.2918-208_2918-206del | |
| XM_006724616.2:c.2918-208_2918-206del | XP_006724679.1:n.2918-208_2918-206del | |
| XM_011530849.1:c.2594-208_2594-206del | XP_011529151.1:n.2594-208_2594-206del | |
| XM_011530850.1:c.2918-208_2918-206del | XP_011529152.1:n.2918-208_2918-206del | |
| XM_011530851.1:c.491-208_491-206del | XP_011529153.1:n.491-208_491-206del | |
| XM_011530849.2:c.2933-208_2933-206del | XP_011529151.2:n.2933-208_2933-206del | |
| XM_017029259.2:c.2933-208_2933-206del | XP_016884748.1:n.2933-208_2933-206del | |
| XM_017029260.1:c.2933-208_2933-206del | XP_016884749.1:n.2933-208_2933-206del | |
| XM_017029261.1:c.2933-208_2933-206del | XP_016884750.1:n.2933-208_2933-206del | |
| XM_017029262.2:c.2933-208_2933-206del | XP_016884751.1:n.2933-208_2933-206del | |
| XM_017029263.2:c.1253-208_1253-206del | XP_016884752.1:n.1253-208_1253-206del | |
| NM_000495.5:c.2918-208_2918-206del | NP_000486.1:n.2918-208_2918-206del | |
| NM_033380.3:c.2918-208_2918-206del MANE Select | NP_203699.1:n.2918-208_2918-206del |