Linked Data
dbSNP Id:
rs1908713184
gnomAD v3:
17-7001604-TCAGCCTCCCAACCC-T
gnomAD v4:
17-7001604-TCAGCCTCCCAACCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7001609_7001622del , CM000679.2:g.7001609_7001622del | GRCh38 |
| NC_000017.10:g.6904928_6904941del , CM000679.1:g.6904928_6904941del | GRCh37 |
| NC_000017.9:g.6845652_6845665del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.959_972del (ALOX12) MANE Select | ENSP00000251535.6:p.Pro320LeufsTer? | |
| ENST00000251535.10:c.959_972del (ALOX12) | ENSP00000251535.6:p.Pro320LeufsTer? | |
| NM_000697.2:c.959_972del (ALOX12) | NP_000688.2:p.Pro320LeufsTer? | |
| NR_040089.1:n.233+8178_233+8191del (ALOX12-AS1) | ||
| XM_011523780.1:c.1109_1122del (ALOX12) | XP_011522082.1:p.Pro370LeufsTer? | |
| XM_011523780.2:c.1109_1122del (ALOX12) | XP_011522082.1:p.Pro370LeufsTer? | |
| NM_000697.3:c.959_972del (ALOX12) MANE Select | NP_000688.2:p.Pro320LeufsTer? |