Linked Data
dbSNP Id:
rs1034473445
gnomAD v2:
1-205743777-CAA-C
gnomAD v3:
1-205774649-CAA-C
gnomAD v4:
1-205774649-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205774650_205774651del , CM000663.2:g.205774650_205774651del | GRCh38 |
| NC_000001.10:g.205743778_205743779del , CM000663.1:g.205743778_205743779del | GRCh37 |
| NC_000001.9:g.204010401_204010402del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367139.8:c.124+182_124+183del MANE Select | ENSP00000356107.3:n.124+182_124+183del | |
| ENST00000235932.8:c.124+182_124+183del | ENSP00000235932.4:n.124+182_124+183del | |
| ENST00000367139.7:c.124+182_124+183del | ENSP00000356107.3:n.124+182_124+183del | |
| ENST00000414729.1:c.124+182_124+183del | ENSP00000402910.1:n.124+182_124+183del | |
| ENST00000437324.6:c.-93+622_-93+623del | ENSP00000416613.2:n.-93+622_-93+623del | |
| ENST00000446390.6:c.124+182_124+183del | ENSP00000389899.2:n.124+182_124+183del | |
| ENST00000468887.1:n.168+622_168+623del | ||
| ENST00000492534.1:n.319+182_319+183del | ||
| ENST00000528078.1:c.124+182_124+183del | ENSP00000431483.1:n.124+182_124+183del | |
| ENST00000533111.1:n.81+478_81+479del | ||
| NM_001135662.1:c.124+182_124+183del | NP_001129134.1:n.124+182_124+183del | |
| NM_001135663.1:c.124+182_124+183del | NP_001129135.1:n.124+182_124+183del | |
| NM_001135664.1:c.-93+622_-93+623del | NP_001129136.1:n.-93+622_-93+623del | |
| NM_003929.2:c.124+182_124+183del | NP_003920.1:n.124+182_124+183del | |
| XM_005245569.1:c.124+182_124+183del | XP_005245626.1:n.124+182_124+183del | |
| XM_005245570.1:c.124+182_124+183del | XP_005245627.1:n.124+182_124+183del | |
| XM_005245571.1:c.124+182_124+183del | XP_005245628.1:n.124+182_124+183del | |
| XM_006711605.2:c.-93+723_-93+724del | XP_006711668.1:n.-93+723_-93+724del | |
| XM_006711606.1:c.-93+751_-93+752del | XP_006711669.1:n.-93+751_-93+752del | |
| XM_006711605.3:c.-93+723_-93+724del | XP_006711668.1:n.-93+723_-93+724del | |
| XM_006711606.3:c.-93+751_-93+752del | XP_006711669.1:n.-93+751_-93+752del | |
| XM_017002748.1:c.124+182_124+183del | XP_016858237.1:n.124+182_124+183del | |
| XM_017002749.1:c.124+182_124+183del | XP_016858238.1:n.124+182_124+183del | |
| XM_017002750.1:c.124+182_124+183del | XP_016858239.1:n.124+182_124+183del | |
| NM_003929.3:c.124+182_124+183del MANE Select | NP_003920.1:n.124+182_124+183del | |
| NM_001135662.2:c.124+182_124+183del | NP_001129134.1:n.124+182_124+183del | |
| NM_001135663.2:c.124+182_124+183del | NP_001129135.1:n.124+182_124+183del | |
| NM_001135664.2:c.-93+622_-93+623del | NP_001129136.1:n.-93+622_-93+623del |