Linked Data
dbSNP Id:
rs745683915
ExAC:
1:151397396 GC / G
gnomAD v2:
1-151397396-GC-G
gnomAD v3:
1-151424920-GC-G
gnomAD v4:
1-151424920-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151424922del , CM000663.2:g.151424922del | GRCh38 |
| NC_000001.10:g.151397398del , CM000663.1:g.151397398del | GRCh37 |
| NC_000001.9:g.149664022del | NCBI36 |
| NG_046601.1:g.39545del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710270.1:c.1233+34del | ENSP00000518163.1:n.1233+34del | |
| ENST00000392723.6:c.1026+34del | ENSP00000376484.1:n.1026+34del | |
| ENST00000439756.2:c.1185+34del | ENSP00000390156.2:n.1185+34del | |
| ENST00000703168.1:c.1206+34del | ENSP00000515214.1:n.1206+34del | |
| ENST00000703169.1:c.1158+34del | ENSP00000515215.1:n.1158+34del | |
| ENST00000271715.7:c.1185+34del MANE Select | ENSP00000271715.2:n.1185+34del | |
| ENST00000271715.6:c.1185+34del | ENSP00000271715.2:n.1185+34del | |
| ENST00000358476.7:n.1054+34del | ||
| ENST00000368863.6:c.900+34del | ENSP00000357856.2:n.900+34del | |
| ENST00000392723.5:c.1026+34del | ENSP00000376484.1:n.1026+34del | |
| ENST00000409503.5:c.1158+34del | ENSP00000386836.1:n.1158+34del | |
| ENST00000441516.1:c.159-635del | ||
| ENST00000491586.5:c.1026+34del | ENSP00000418408.1:n.1026+34del | |
| ENST00000495253.1:n.340+34del | ||
| ENST00000531094.5:c.999+34del | ENSP00000431259.1:n.999+34del | |
| NM_001194937.1:c.1158+34del | NP_001181866.1:n.1158+34del | |
| NM_001194938.1:c.999+34del | NP_001181867.1:n.999+34del | |
| NM_015100.3:c.1185+34del | NP_055915.2:n.1185+34del | |
| NM_145796.3:c.900+34del | NP_665739.3:n.900+34del | |
| NM_207171.2:c.1026+34del | NP_997054.1:n.1026+34del | |
| XM_005244999.1:c.1185+34del | XP_005245056.1:n.1185+34del | |
| XM_005245000.3:c.1185+34del | XP_005245057.1:n.1185+34del | |
| XM_005245001.1:c.1185+34del | XP_005245058.1:n.1185+34del | |
| XM_005245005.1:c.1026+34del | XP_005245062.1:n.1026+34del | |
| XM_005245006.3:c.1026+34del | XP_005245063.1:n.1026+34del | |
| XM_011509330.1:c.1077+34del | XP_011507632.1:n.1077+34del | |
| XM_011509331.1:c.828+34del | XP_011507633.1:n.828+34del | |
| XR_921760.1:n.1186+34del | ||
| XM_005244999.3:c.1185+34del | XP_005245056.1:n.1185+34del | |
| XM_005245000.4:c.1185+34del | XP_005245057.1:n.1185+34del | |
| XM_005245001.2:c.1185+34del | XP_005245058.1:n.1185+34del | |
| XM_005245005.2:c.1026+34del | XP_005245062.1:n.1026+34del | |
| XM_005245006.5:c.1026+34del | XP_005245063.1:n.1026+34del | |
| XM_017000744.1:c.1206+34del | XP_016856233.1:n.1206+34del | |
| XM_017000745.2:c.1158+34del | XP_016856234.1:n.1158+34del | |
| XM_017000746.1:c.1158+34del | XP_016856235.1:n.1158+34del | |
| XM_017000748.1:c.1026+34del | XP_016856237.1:n.1026+34del | |
| XM_017000749.1:c.1026+34del | XP_016856238.1:n.1026+34del | |
| XM_024454305.1:c.1206+34del | XP_024310073.1:n.1206+34del | |
| XM_024454306.1:c.-15-635del | XP_024310074.1:n.-15-635del | |
| XR_002959801.1:n.1213+34del | ||
| NM_015100.4:c.1185+34del MANE Select | NP_055915.2:n.1185+34del | |
| NM_001194937.2:c.1158+34del | NP_001181866.1:n.1158+34del | |
| NM_001194938.2:c.999+34del | NP_001181867.1:n.999+34del | |
| NM_145796.4:c.900+34del | NP_665739.3:n.900+34del |