Linked Data
ClinVar Variation Id:
2966843
ClinVar RCV Id:
RCV003828977
dbSNP Id:
rs1839081587
gnomAD v4:
9-134822985-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134822992_134822993del , CM000671.2:g.134822992_134822993del | GRCh38 |
| NC_000009.11:g.137714838_137714839del , CM000671.1:g.137714838_137714839del | GRCh37 |
| NC_000009.10:g.136854659_136854660del | NCBI36 |
| NG_008030.1:g.186187_186188del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.4609-6_4609-5del | ENSP00000360885.4:n.4609-6_4609-5del | |
| ENST00000371817.8:c.4609-6_4609-5del MANE Select | ENSP00000360882.3:n.4609-6_4609-5del | |
| ENST00000371817.7:c.4609-6_4609-5del | ENSP00000360882.3:n.4609-6_4609-5del | |
| ENST00000460264.5:n.71_72del | ||
| ENST00000618395.4:c.4609-6_4609-5del | ENSP00000481360.1:n.4609-6_4609-5del | |
| NM_000093.4:c.4609-6_4609-5del | NP_000084.3:n.4609-6_4609-5del | |
| NM_001278074.1:c.4609-6_4609-5del | NP_001265003.1:n.4609-6_4609-5del | |
| NR_103451.2:n.71-2778_71-2777del | ||
| XR_929712.1:n.5011-6_5011-5del | ||
| XR_929713.1:n.5011-6_5011-5del | ||
| XM_017014266.2:c.4609-6_4609-5del | XP_016869755.1:n.4609-6_4609-5del | |
| XR_001746183.1:n.5007-6_5007-5del | ||
| NM_000093.5:c.4609-6_4609-5del MANE Select | NP_000084.3:n.4609-6_4609-5del |