Linked Data
dbSNP Id:
rs1285595520
gnomAD v2:
12-124220171-TGTGA-T
gnomAD v3:
12-123735624-TGTGA-T
gnomAD v4:
12-123735624-TGTGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123735627_123735630del , CM000674.2:g.123735627_123735630del | GRCh38 |
| NC_000012.11:g.124220174_124220177del , CM000674.1:g.124220174_124220177del | GRCh37 |
| NC_000012.10:g.122786127_122786130del | NCBI36 |
| NG_012743.1:g.28310_28313del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.825+3_825+6del MANE Select | ENSP00000332247.2:n.825+3_825+6del | |
| ENST00000540368.6:n.856+3_856+6del | ||
| ENST00000613625.5:c.825+3_825+6del | ENSP00000482236.1:n.825+3_825+6del | |
| ENST00000674794.1:c.265+3_265+6del | ||
| ENST00000675344.1:c.825+3_825+6del | ENSP00000501953.1:n.825+3_825+6del | |
| ENST00000330342.7:c.825+3_825+6del | ENSP00000332247.2:n.825+3_825+6del | |
| ENST00000504192.2:c.435+3_435+6del | ENSP00000443441.1:n.435+3_435+6del | |
| ENST00000540368.5:n.1035+3_1035+6del | ||
| ENST00000545059.5:n.3461+3_3461+6del | ||
| ENST00000613625.4:c.825+3_825+6del | ENSP00000482236.1:n.825+3_825+6del | |
| NM_012463.3:c.825+3_825+6del | NP_036595.2:n.825+3_825+6del | |
| XM_005253563.1:c.825+3_825+6del | XP_005253620.1:n.825+3_825+6del | |
| XM_006719317.2:c.312+3_312+6del | XP_006719380.1:n.312+3_312+6del | |
| XR_429088.1:n.988+3_988+6del | ||
| XM_024448910.1:c.825+3_825+6del | XP_024304678.1:n.825+3_825+6del | |
| XM_024448911.1:c.312+3_312+6del | XP_024304679.1:n.312+3_312+6del | |
| NM_012463.4:c.825+3_825+6del MANE Select | NP_036595.2:n.825+3_825+6del |