Linked Data
dbSNP Id:
rs2089369031
gnomAD v3:
21-41374281-TTTCTAA-T
gnomAD v4:
21-41374281-TTTCTAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41374286_41374291del , CM000683.2:g.41374286_41374291del | GRCh38 |
| NC_000021.8:g.42746213_42746218del , CM000683.1:g.42746213_42746218del | GRCh37 |
| NC_000021.7:g.41668083_41668088del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330714.8:c.-71-2550_-71-2545del MANE Select | ENSP00000333657.3:n.-71-2550_-71-2545del | |
| ENST00000418103.2:c.-71-2550_-71-2545del | ENSP00000410188.2:n.-71-2550_-71-2545del | |
| ENST00000435611.6:c.-71-2550_-71-2545del | ENSP00000389256.2:n.-71-2550_-71-2545del | |
| ENST00000680862.1:c.-71-2550_-71-2545del | ENSP00000506423.1:n.-71-2550_-71-2545del | |
| ENST00000330714.7:c.-71-2550_-71-2545del | ENSP00000333657.3:n.-71-2550_-71-2545del | |
| ENST00000416447.1:c.-72+159_-72+164del | ENSP00000411179.1:n.-72+159_-72+164del | |
| ENST00000418103.1:c.-71-2550_-71-2545del | ENSP00000410188.1:n.-71-2550_-71-2545del | |
| ENST00000435611.5:c.-71-2550_-71-2545del | ENSP00000389256.1:n.-71-2550_-71-2545del | |
| ENST00000436410.5:c.-72+1287_-72+1292del | ENSP00000393975.1:n.-72+1287_-72+1292del | |
| NM_002463.1:c.-71-2550_-71-2545del | NP_002454.1:n.-71-2550_-71-2545del | |
| XM_005260983.3:c.-71-2550_-71-2545del | XP_005261040.1:n.-71-2550_-71-2545del | |
| XM_005260984.1:c.-71-2550_-71-2545del | XP_005261041.1:n.-71-2550_-71-2545del | |
| XM_011529571.1:c.-72+1287_-72+1292del | XP_011527873.1:n.-72+1287_-72+1292del | |
| XM_011529572.1:c.-72+159_-72+164del | XP_011527874.1:n.-72+159_-72+164del | |
| XM_011529573.1:c.-71-2550_-71-2545del | XP_011527875.1:n.-71-2550_-71-2545del | |
| XM_005260983.5:c.-71-2550_-71-2545del | XP_005261040.1:n.-71-2550_-71-2545del | |
| XM_011529572.2:c.-72+159_-72+164del | XP_011527874.1:n.-72+159_-72+164del | |
| XM_011529573.2:c.-71-2550_-71-2545del | XP_011527875.1:n.-71-2550_-71-2545del | |
| XM_024452080.1:c.-71-2550_-71-2545del | XP_024307848.1:n.-71-2550_-71-2545del | |
| NM_002463.2:c.-71-2550_-71-2545del MANE Select | NP_002454.1:n.-71-2550_-71-2545del |