Linked Data
dbSNP Id:
rs746882079
ExAC:
13:48563118 TAGA / T
gnomAD v2:
13-48563118-TAGA-T
gnomAD v3:
13-47988983-TAGA-T
gnomAD v4:
13-47988983-TAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47988988_47988990del , CM000675.2:g.47988988_47988990del | GRCh38 |
| NC_000013.10:g.48563123_48563125del , CM000675.1:g.48563123_48563125del | GRCh37 |
| NC_000013.9:g.47461124_47461126del | NCBI36 |
| NG_008241.1:g.17342_17344del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642944.1:c.98-5_98-3del | ENSP00000495674.1:n.98-5_98-3del | |
| ENST00000643023.1:c.272-5_272-3del | ENSP00000495664.1:n.272-5_272-3del | |
| ENST00000643584.1:c.272-5_272-3del | ENSP00000494987.1:n.272-5_272-3del | |
| ENST00000644338.1:c.272-5_272-3del | ENSP00000494723.1:n.272-5_272-3del | |
| ENST00000646602.1:c.272-5_272-3del | ENSP00000495250.1:n.272-5_272-3del | |
| ENST00000646804.1:c.98-5_98-3del | ENSP00000493977.1:n.98-5_98-3del | |
| ENST00000646932.1:c.272-5_272-3del MANE Select | ENSP00000494360.1:n.272-5_272-3del | |
| ENST00000647361.1:c.*65-5_*65-3del | ENSP00000494607.1:n.*65-5_*65-3del | |
| ENST00000378654.8:c.272-5_272-3del | ENSP00000367923.3:n.272-5_272-3del | |
| ENST00000433022.1:c.90+12194_90+12196del | ENSP00000415091.1:n.90+12194_90+12196del | |
| ENST00000434484.5:c.62-5_62-3del | ENSP00000392771.1:n.62-5_62-3del | |
| ENST00000470760.2:c.272-5_272-3del | ENSP00000488974.1:n.272-5_272-3del | |
| ENST00000497202.6:c.366-5_366-3del | ENSP00000489175.1:n.366-5_366-3del | |
| NM_003850.2:c.272-5_272-3del | NP_003841.1:n.272-5_272-3del | |
| XM_011535292.1:c.35-5_35-3del | XP_011533594.1:n.35-5_35-3del | |
| XM_011535293.1:c.-131-5_-131-3del | XP_011533595.1:n.-131-5_-131-3del | |
| XR_941688.1:n.316-5_316-3del | ||
| NM_003850.3:c.272-5_272-3del MANE Select | NP_003841.1:n.272-5_272-3del |