Linked Data
dbSNP Id:
rs1409303168
gnomAD v2:
12-125453058-CCT-C
gnomAD v3:
12-124968512-CCT-C
gnomAD v4:
12-124968512-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124968513_124968514del , CM000674.2:g.124968513_124968514del | GRCh38 |
| NC_000012.11:g.125453059_125453060del , CM000674.1:g.125453059_125453060del | GRCh37 |
| NC_000012.10:g.124019012_124019013del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308736.7:c.1408+20_1408+21del MANE Select | ENSP00000311135.2:n.1408+20_1408+21del | |
| ENST00000544745.2:c.879+20_879+21del | ||
| ENST00000679875.1:n.1480+20_1480+21del | ||
| ENST00000308736.6:c.1408+20_1408+21del | ENSP00000311135.2:n.1408+20_1408+21del | |
| ENST00000539298.1:n.1508+20_1508+21del | ||
| ENST00000544745.1:c.769+20_769+21del | ENSP00000439009.1:n.769+20_769+21del | |
| NM_032656.3:c.1408+20_1408+21del | NP_116045.2:n.1408+20_1408+21del | |
| XM_005253590.2:c.1408+20_1408+21del | XP_005253647.1:n.1408+20_1408+21del | |
| XM_011538597.1:c.1408+20_1408+21del | XP_011536899.1:n.1408+20_1408+21del | |
| XM_011538598.1:c.1408+20_1408+21del | XP_011536900.1:n.1408+20_1408+21del | |
| XM_011538599.1:c.1408+20_1408+21del | XP_011536901.1:n.1408+20_1408+21del | |
| XM_011538600.1:c.1408+20_1408+21del | XP_011536902.1:n.1408+20_1408+21del | |
| XM_005253590.3:c.1408+20_1408+21del | XP_005253647.1:n.1408+20_1408+21del | |
| XM_011538598.2:c.1408+20_1408+21del | XP_011536900.1:n.1408+20_1408+21del | |
| XM_011538600.2:c.1408+20_1408+21del | XP_011536902.1:n.1408+20_1408+21del | |
| XR_001748819.1:n.1511+20_1511+21del | ||
| XR_001748820.1:n.1511+20_1511+21del | ||
| NM_032656.4:c.1408+20_1408+21del MANE Select | NP_116045.2:n.1408+20_1408+21del |