Linked Data
dbSNP Id:
rs1567698428
gnomAD v2:
17-15133965-TCTTTAAGGCTCAA-T
gnomAD v3:
17-15230648-TCTTTAAGGCTCAA-T
gnomAD v4:
17-15230648-TCTTTAAGGCTCAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15230650_15230662del , CM000679.2:g.15230650_15230662del | GRCh38 |
| NC_000017.10:g.15133967_15133979del , CM000679.1:g.15133967_15133979del | GRCh37 |
| NC_000017.9:g.15074692_15074704del | NCBI36 |
| NG_007949.1:g.39667_39679del , LRG_263:g.39667_39679del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312280.9:c.*256_*268del MANE Select | ENSP00000308937.3:n.*256_*268del | |
| ENST00000395936.7:c.*448_*460del | ENSP00000379268.1:n.*448_*460del | |
| ENST00000395938.7:c.*74_*86del | ENSP00000379269.3:n.*74_*86del | |
| ENST00000494511.7:c.*256_*268del | ENSP00000462782.2:n.*256_*268del | |
| ENST00000580584.3:c.*256_*268del | ENSP00000464468.3:n.*256_*268del | |
| ENST00000612492.5:c.*256_*268del | ENSP00000484631.1:n.*256_*268del | |
| ENST00000643451.2:c.*594_*606del | ENSP00000494628.1:n.*594_*606del | |
| ENST00000644020.1:c.*448_*460del | ENSP00000496522.1:n.*448_*460del | |
| ENST00000646419.2:c.*448_*460del | ENSP00000494871.1:n.*448_*460del | |
| ENST00000674651.1:c.*256_*268del | ENSP00000501727.1:n.*256_*268del | |
| ENST00000674673.1:c.*256_*268del | ENSP00000501804.1:n.*256_*268del | |
| ENST00000674707.1:c.*256_*268del | ENSP00000502250.1:n.*256_*268del | |
| ENST00000674871.1:n.755_767del | ||
| ENST00000674947.1:c.*74_*86del | ENSP00000501580.1:n.*74_*86del | |
| ENST00000675197.1:n.719_731del | ||
| ENST00000675551.1:c.*408_*420del | ENSP00000501945.1:n.*408_*420del | |
| ENST00000675808.1:c.*256_*268del | ENSP00000502310.1:n.*256_*268del | |
| ENST00000675819.1:c.*256_*268del | ENSP00000502018.1:n.*256_*268del | |
| ENST00000675854.1:c.*256_*268del | ENSP00000502324.1:n.*256_*268del | |
| ENST00000675950.1:c.*256_*268del | ENSP00000501546.1:n.*256_*268del | |
| ENST00000676002.1:n.732_744del | ||
| ENST00000676161.1:c.*256_*268del | ENSP00000501766.1:n.*256_*268del | |
| ENST00000676221.1:c.*256_*268del | ENSP00000502601.1:n.*256_*268del | |
| ENST00000676329.1:c.*256_*268del | ENSP00000501698.1:n.*256_*268del | |
| ENST00000312280.7:c.*256_*268del | ENSP00000308937.3:n.*256_*268del | |
| ENST00000395938.6:c.*256_*268del | ENSP00000379269.2:n.*256_*268del | |
| ENST00000494511.5:c.*74_*86del | ENSP00000462782.1:n.*74_*86del | |
| ENST00000612492.4:c.*256_*268del | ENSP00000484631.1:n.*256_*268del | |
| NM_000304.3:c.*256_*268del | NP_000295.1:n.*256_*268del | |
| NM_001281455.1:c.*256_*268del | NP_001268384.1:n.*256_*268del | |
| NM_001281456.1:c.*256_*268del | NP_001268385.1:n.*256_*268del | |
| NM_153321.2:c.*256_*268del | NP_696996.1:n.*256_*268del | |
| NM_153322.2:c.*256_*268del | NP_696997.1:n.*256_*268del | |
| NR_104017.1:n.865_877del | ||
| NR_104018.1:n.765_777del | ||
| NM_000304.4:c.*256_*268del MANE Select | NP_000295.1:n.*256_*268del | |
| NM_001281456.2:c.*256_*268del | NP_001268385.1:n.*256_*268del | |
| NM_153321.3:c.*256_*268del | NP_696996.1:n.*256_*268del | |
| NM_153322.3:c.*256_*268del | NP_696997.1:n.*256_*268del | |
| NR_104017.2:n.834_846del | ||
| NR_104018.2:n.734_746del | ||
| NM_001281455.2:c.*256_*268del | NP_001268384.1:n.*256_*268del |