Linked Data
ClinVar Variation Id:
228516
ClinVar RCV Id:
RCV000222094
dbSNP Id:
rs876657763
gnomAD v2:
7-136699662-CTTA-C
gnomAD v4:
7-137014915-CTTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.137014917_137014919del , CM000669.2:g.137014917_137014919del | GRCh38 |
| NC_000007.13:g.136699664_136699666del , CM000669.1:g.136699664_136699666del | GRCh37 |
| NC_000007.12:g.136350204_136350206del | NCBI36 |
| NG_011846.2:g.151266_151268del , LRG_405:g.151266_151268del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680005.1:c.52_54del MANE Select | ENSP00000505686.1:p.Tyr18del | |
| ENST00000320658.9:c.52_54del | ENSP00000319984.5:p.Tyr18del | |
| ENST00000401861.1:c.52_54del | ENSP00000384401.1:p.Tyr18del | |
| ENST00000445907.6:c.52_54del | ENSP00000399745.2:p.Tyr18del | |
| ENST00000453373.5:c.52_54del | ENSP00000415386.1:p.Tyr18del | |
| NM_000739.2:c.52_54del , LRG_405t1:c.52_54del | NP_000730.1:p.Tyr18del | |
| NM_001006626.1:c.52_54del | NP_001006627.1:p.Tyr18del | |
| NM_001006627.1:c.52_54del | NP_001006628.1:p.Tyr18del | |
| NM_001006628.1:c.52_54del | NP_001006629.1:p.Tyr18del | |
| NM_001006629.1:c.52_54del | NP_001006630.1:p.Tyr18del | |
| NM_001006630.1:c.52_54del , LRG_405t2:c.52_54del | NP_001006631.1:p.Tyr18del | |
| NM_001006631.1:c.52_54del | NP_001006632.1:p.Tyr18del | |
| NM_001006632.1:c.52_54del | NP_001006633.1:p.Tyr18del | |
| NR_046103.1:n.341+17876_341+17878del | ||
| XM_011515769.1:c.52_54del | XP_011514071.1:p.Tyr18del | |
| XM_011515770.1:c.52_54del | XP_011514072.1:p.Tyr18del | |
| XM_011515771.1:c.52_54del | XP_011514073.1:p.Tyr18del | |
| XM_024446648.1:c.52_54del | XP_024302416.1:p.Tyr18del | |
| NM_001006626.2:c.52_54del | NP_001006627.1:p.Tyr18del | |
| NM_001006627.2:c.52_54del | NP_001006628.1:p.Tyr18del | |
| NM_001006628.2:c.52_54del | NP_001006629.1:p.Tyr18del | |
| NM_001006629.2:c.52_54del | NP_001006630.1:p.Tyr18del | |
| NM_001006631.2:c.52_54del | NP_001006632.1:p.Tyr18del | |
| NM_001006632.2:c.52_54del | NP_001006633.1:p.Tyr18del | |
| NM_000739.3:c.52_54del | NP_000730.1:p.Tyr18del | |
| NM_001006626.3:c.52_54del | NP_001006627.1:p.Tyr18del | |
| NM_001006627.3:c.52_54del | NP_001006628.1:p.Tyr18del | |
| NM_001006628.3:c.52_54del | NP_001006629.1:p.Tyr18del | |
| NM_001006629.3:c.52_54del | NP_001006630.1:p.Tyr18del | |
| NM_001006630.2:c.52_54del MANE Select | NP_001006631.1:p.Tyr18del | |
| NM_001006631.3:c.52_54del | NP_001006632.1:p.Tyr18del | |
| NM_001006632.3:c.52_54del | NP_001006633.1:p.Tyr18del | |
| NM_001378972.1:c.52_54del | NP_001365901.1:p.Tyr18del | |
| NM_001378973.1:c.52_54del | NP_001365902.1:p.Tyr18del |