Linked Data
dbSNP Id:
rs147211454
gnomAD v2:
9-71668130-TTGCAGACAAGCCA-T
gnomAD v4:
9-69053214-TTGCAGACAAGCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69053216_69053228del , CM000671.2:g.69053216_69053228del | GRCh38 |
| NC_000009.11:g.71668132_71668144del , CM000671.1:g.71668132_71668144del | GRCh37 |
| NC_000009.10:g.70857952_70857964del | NCBI36 |
| NG_008845.2:g.22654_22666del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377270.8:c.115_127del | ENSP00000366482.4:p.Ala39ThrfsTer15 | |
| ENST00000484259.3:c.340_352del MANE Select | ENSP00000419243.2:p.Ala114ThrfsTer15 | |
| ENST00000642330.1:c.340_352del | ENSP00000493770.1:p.Ala114ThrfsTer22 | |
| ENST00000642889.1:c.165+17269_165+17281del | ENSP00000493780.1:n.165+17269_165+17281de... | |
| ENST00000643352.1:c.340_352del | ENSP00000496488.1:p.Ala114ThrfsTer15 | |
| ENST00000643765.1:c.338_350del | ||
| ENST00000644653.1:c.263+6734_263+6746del | ENSP00000495217.1:n.263+6734_263+6746del | |
| ENST00000644977.1:c.*65_*77del | ENSP00000495651.1:n.*65_*77del | |
| ENST00000645088.1:c.263+6734_263+6746del | ENSP00000495447.1:n.263+6734_263+6746del | |
| ENST00000646862.1:c.340_352del | ENSP00000494599.1:p.Ala114ThrfsTer22 | |
| ENST00000377270.7:c.340_352del | ENSP00000366482.3:p.Ala114ThrfsTer15 | |
| ENST00000396364.7:c.340_352del | ENSP00000379650.3:p.Ala114ThrfsTer15 | |
| ENST00000396366.6:c.340_352del | ENSP00000379652.2:p.Ala114ThrfsTer15 | |
| ENST00000484259.1:c.76+6734_76+6746del | ||
| ENST00000498653.5:c.115_127del | ENSP00000418015.1:p.Ala39ThrfsTer15 | |
| NM_000144.4:c.340_352del | NP_000135.2:p.Ala114ThrfsTer15 | |
| NM_001161706.1:c.340_352del | NP_001155178.1:p.Ala114ThrfsTer15 | |
| NM_181425.2:c.340_352del | NP_852090.1:p.Ala114ThrfsTer15 | |
| NM_000144.5:c.340_352del MANE Select | NP_000135.2:p.Ala114ThrfsTer15 | |
| NM_181425.3:c.340_352del | NP_852090.1:p.Ala114ThrfsTer15 |