Linked Data
ClinVar Variation Id:
56552
dbSNP Id:
rs386833988
ExAC:
6:74320242 TAC / T
gnomAD v2:
6-74320242-TAC-T
gnomAD v3:
6-73610519-TAC-T
gnomAD v4:
6-73610519-TAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73610520_73610521del , CM000668.2:g.73610520_73610521del | GRCh38 |
| NC_000006.11:g.74320243_74320244del , CM000668.1:g.74320243_74320244del | GRCh37 |
| NC_000006.10:g.74376964_74376965del | NCBI36 |
| NG_008272.1:g.48494_48495del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.1138_1139del MANE Select | ENSP00000348019.5:p.Val380SerfsTer8 | |
| ENST00000355773.5:c.1138_1139del | ENSP00000348019.5:p.Val380SerfsTer8 | |
| NM_012434.4:c.1138_1139del | NP_036566.1:p.Val380SerfsTer8 | |
| XM_005248710.2:c.1087_1088del | XP_005248767.1:p.Val363SerfsTer8 | |
| XM_005248711.1:c.940_941del | XP_005248768.1:p.Val314SerfsTer8 | |
| XM_011535750.1:c.1111+4794_1111+4795del | XP_011534052.1:n.1111+4794_1111+4795del | |
| NM_012434.5:c.1138_1139del MANE Select | NP_036566.1:p.Val380SerfsTer8 | |
| NM_001382629.1:c.907_908del | NP_001369558.1:p.Val303SerfsTer8 | |
| NM_001382630.1:c.1138_1139del | NP_001369559.1:p.Val380SerfsTer8 | |
| NM_001382631.1:c.1159_1160del | NP_001369560.1:p.Val387SerfsTer8 | |
| NM_001382632.1:c.1051_1052del | NP_001369561.1:p.Val351SerfsTer8 | |
| NM_001382633.1:c.1138_1139del | NP_001369562.1:p.Val380SerfsTer8 | |
| NM_001382634.1:c.979_980del | NP_001369563.1:p.Val327SerfsTer8 | |
| NM_001382635.1:c.1135_1136del | NP_001369564.1:p.Val379SerfsTer8 | |
| NM_001382636.1:c.820_821del | NP_001369565.1:p.Val274SerfsTer8 |