Linked Data
dbSNP Id:
rs909569676
gnomAD v2:
10-89727653-CTTACT-C
gnomAD v3:
10-87967896-CTTACT-C
gnomAD v4:
10-87967896-CTTACT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87967900_87967904del , CM000672.2:g.87967900_87967904del | GRCh38 |
| NC_000010.10:g.89727657_89727661del , CM000672.1:g.89727657_89727661del | GRCh37 |
| NC_000010.9:g.89717637_89717641del | NCBI36 |
| NG_007466.2:g.109462_109466del , LRG_311:g.109462_109466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710265.1:c.*2669_*2673del | ENSP00000518161.1:n.*2669_*2673del | |
| ENST00000688158.2:n.4375_4379del | ||
| ENST00000706954.1:c.*2428_*2432del | ENSP00000516674.1:n.*2428_*2432del | |
| ENST00000706955.1:c.*3675_*3679del | ENSP00000516675.1:n.*3675_*3679del | |
| ENST00000688158.1:c.*3751_*3755del | ENSP00000509254.1:n.*3751_*3755del | |
| ENST00000693560.1:c.*2428_*2432del | ENSP00000509861.1:n.*2428_*2432del | |
| ENST00000371953.8:c.*2428_*2432del MANE Select | ENSP00000361021.3:n.*2428_*2432del | |
| ENST00000371953.7:c.*2428_*2432del | ENSP00000361021.3:n.*2428_*2432del | |
| NM_000314.5:c.*2428_*2432del | NP_000305.3:n.*2428_*2432del | |
| NM_000314.6:c.*2428_*2432del | NP_000305.3:n.*2428_*2432del | |
| NM_001304717.2:c.*2428_*2432del | NP_001291646.2:n.*2428_*2432del | |
| NM_001304718.1:c.*2428_*2432del | NP_001291647.1:n.*2428_*2432del | |
| XM_006717926.2:c.*2428_*2432del | XP_006717989.1:n.*2428_*2432del | |
| XM_011539982.1:c.*2428_*2432del | XP_011538284.1:n.*2428_*2432del | |
| XR_945791.1:n.4210_4214del | ||
| NM_000314.7:c.*2428_*2432del | NP_000305.3:n.*2428_*2432del | |
| NM_001304717.5:c.*2428_*2432del | NP_001291646.4:n.*2428_*2432del | |
| NM_001304718.2:c.*2428_*2432del | NP_001291647.1:n.*2428_*2432del | |
| NM_000314.8:c.*2428_*2432del MANE Select | NP_000305.3:n.*2428_*2432del |