Linked Data
dbSNP Id:
rs763843638
ExAC:
17:6904872 TATA / T
gnomAD v2:
17-6904872-TATA-T
gnomAD v4:
17-7001553-TATA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7001556_7001558del , CM000679.2:g.7001556_7001558del | GRCh38 |
| NC_000017.10:g.6904875_6904877del , CM000679.1:g.6904875_6904877del | GRCh37 |
| NC_000017.9:g.6845599_6845601del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251535.11:c.952-46_952-44del (ALOX12) MANE Select | ENSP00000251535.6:n.952-46_952-44del | |
| ENST00000251535.10:c.952-46_952-44del (ALOX12) | ENSP00000251535.6:n.952-46_952-44del | |
| NM_000697.2:c.952-46_952-44del (ALOX12) | NP_000688.2:n.952-46_952-44del | |
| NR_040089.1:n.233+8240_233+8242del (ALOX12-AS1) | ||
| XM_011523780.1:c.1102-46_1102-44del (ALOX12) | XP_011522082.1:n.1102-46_1102-44del | |
| XM_011523780.2:c.1102-46_1102-44del (ALOX12) | XP_011522082.1:n.1102-46_1102-44del | |
| NM_000697.3:c.952-46_952-44del (ALOX12) MANE Select | NP_000688.2:n.952-46_952-44del |