Linked Data
dbSNP Id:
rs1565650523
gnomAD v2:
12-57905779-TCTGACC-T
gnomAD v4:
12-57511996-TCTGACC-T
MyVariant Identifiers:
chr12:g.57905780_57905785del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57511997_57512002del , CM000674.2:g.57511997_57512002del | GRCh38 |
| NC_000012.11:g.57905780_57905785del , CM000674.1:g.57905780_57905785del | GRCh37 |
| NC_000012.10:g.56192047_56192052del | NCBI36 |
| NG_034077.1:g.29045_29050del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.1540-11_1540-6del MANE Select | ENSP00000262027.5:n.1540-11_1540-6del | |
| ENST00000262027.9:c.1540-11_1540-6del | ENSP00000262027.5:n.1540-11_1540-6del | |
| ENST00000447721.6:n.1182-11_1182-6del | ||
| ENST00000537638.6:c.1540-11_1540-6del | ENSP00000446168.2:n.1540-11_1540-6del | |
| ENST00000545888.6:c.*1041-11_*1041-6del | ENSP00000439307.2:n.*1041-11_*1041-6del | |
| ENST00000546971.5:n.284-11_284-6del | ||
| ENST00000548630.1:n.101-11_101-6del | ||
| ENST00000548944.1:c.134-4498_134-4493del | ENSP00000449071.1:n.134-4498_134-4493del | |
| ENST00000549048.1:n.73-11_73-6del | ||
| ENST00000628866.2:c.*1041-11_*1041-6del | ENSP00000486738.1:n.*1041-11_*1041-6del | |
| NM_004990.3:c.1540-11_1540-6del | NP_004981.2:n.1540-11_1540-6del | |
| XM_006719398.2:c.838-11_838-6del | XP_006719461.1:n.838-11_838-6del | |
| XM_011538353.1:c.1540-11_1540-6del | XP_011536655.1:n.1540-11_1540-6del | |
| XM_006719398.4:c.838-11_838-6del | XP_006719461.1:n.838-11_838-6del | |
| XR_001748704.2:n.1563-11_1563-6del | ||
| XR_002957327.1:n.1487-11_1487-6del | ||
| NM_004990.4:c.1540-11_1540-6del MANE Select | NP_004981.2:n.1540-11_1540-6del |