Linked Data
ClinVar Variation Id:
393559
ClinVar RCV Id:
RCV002522731
dbSNP Id:
rs1060499629
gnomAD v4:
1-241517171-ATGCCACTTAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241517174_241517183del , CM000663.2:g.241517174_241517183del | GRCh38 |
| NC_000001.10:g.241680474_241680483del , CM000663.1:g.241680474_241680483del | GRCh37 |
| NC_000001.9:g.239747097_239747106del | NCBI36 |
| NG_012338.1:g.7574_7583del , LRG_504:g.7574_7583del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000493477.2:n.770+1_770+10del | ||
| ENST00000682162.1:c.296+1_296+10del | ||
| ENST00000682567.1:n.344+1_344+10del | ||
| ENST00000683521.1:c.267+1_267+10del | ||
| ENST00000684483.1:c.267+1_267+10del | ||
| ENST00000366560.4:c.267+1_267+10del | ||
| ENST00000366560.3:c.267+1_267+10del | ||
| ENST00000493477.1:n.380+1_380+10del | ||
| NM_000143.3:c.267+1_267+10del , LRG_504t1:c.267+1_267+10del | ||
| XM_011544132.1:c.39+1_39+10del | ||
| XM_011544132.2:c.39+1_39+10del | ||
| NM_000143.4:c.267+1_267+10del |