Linked Data
dbSNP Id:
rs757146546
ExAC:
17:6904896 GTTC / G
gnomAD v2:
17-6904896-GTTC-G
gnomAD v4:
17-7001577-GTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7001578_7001580del , CM000679.2:g.7001578_7001580del | GRCh38 |
| NC_000017.10:g.6904897_6904899del , CM000679.1:g.6904897_6904899del | GRCh37 |
| NC_000017.9:g.6845621_6845623del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.952-24_952-22del (ALOX12) MANE Select | ENSP00000251535.6:n.952-24_952-22del | |
| ENST00000251535.10:c.952-24_952-22del (ALOX12) | ENSP00000251535.6:n.952-24_952-22del | |
| NM_000697.2:c.952-24_952-22del (ALOX12) | NP_000688.2:n.952-24_952-22del | |
| NR_040089.1:n.233+8216_233+8218del (ALOX12-AS1) | ||
| XM_011523780.1:c.1102-24_1102-22del (ALOX12) | XP_011522082.1:n.1102-24_1102-22del | |
| XM_011523780.2:c.1102-24_1102-22del (ALOX12) | XP_011522082.1:n.1102-24_1102-22del | |
| NM_000697.3:c.952-24_952-22del (ALOX12) MANE Select | NP_000688.2:n.952-24_952-22del |