Linked Data
ClinVar Variation Id:
355692
ClinVar RCV Id:
RCV000354435
dbSNP Id:
rs61597872
gnomAD v2:
6-150719822-CTT-C
gnomAD v3:
6-150398686-CTT-C
gnomAD v4:
6-150398686-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150398697_150398698del , CM000668.2:g.150398697_150398698del | GRCh38 |
| NC_000006.11:g.150719833_150719834del , CM000668.1:g.150719833_150719834del | GRCh37 |
| NC_000006.10:g.150761526_150761527del | NCBI36 |
| NG_016007.1:g.34806_34807del | |
| NG_016007.2:g.34806_34807del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344419.8:c.*460_*461del MANE Select | ENSP00000343763.4:n.*460_*461del | |
| ENST00000229447.9:c.*560_*561del | ENSP00000229447.5:n.*560_*561del | |
| ENST00000344419.7:c.*460_*461del | ENSP00000343763.3:n.*460_*461del | |
| NM_001164694.1:c.*560_*561del | NP_001158166.1:n.*560_*561del | |
| NM_001164695.1:c.*647_*648del | NP_001158167.1:n.*647_*648del | |
| NM_203395.2:c.*460_*461del | NP_981932.1:n.*460_*461del | |
| NM_001318495.1:c.*460_*461del | NP_001305424.1:n.*460_*461del | |
| NR_134655.1:n.1643_1644del | ||
| NM_001164694.2:c.*560_*561del | NP_001158166.1:n.*560_*561del | |
| NM_001164695.2:c.*647_*648del | NP_001158167.1:n.*647_*648del | |
| NM_001318495.2:c.*460_*461del | NP_001305424.1:n.*460_*461del | |
| NM_203395.3:c.*460_*461del MANE Select | NP_981932.1:n.*460_*461del | |
| NR_134655.2:n.1523_1524del |