Linked Data
ClinVar Variation Id:
88857
ClinVar RCV Id:
RCV000074445
dbSNP Id:
rs1555460030
PubMed:
PMID:22753090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91014028_91015011del , CM000677.2:g.91014028_91015011del | GRCh38 |
| NC_000015.9:g.91557258_91558241del , CM000677.1:g.91557258_91558241del | GRCh37 |
| NC_000015.8:g.89358262_89359245del | NCBI36 |
| NG_012162.1:g.12594_13577del , LRG_884:g.12594_13577del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.240-577_290-156del | ||
| ENST00000643536.1:c.240-577_290-156del | ||
| ENST00000647331.1:c.240-577_290-156del | ||
| ENST00000333371.7:c.240-577_290-156del | ||
| ENST00000535906.1:c.159-577_209-156del | ||
| ENST00000554264.5:n.163-577_213-156del | ||
| ENST00000556096.6:n.634-577_684-156del | ||
| ENST00000557358.1:n.444-577_494-156del | ||
| ENST00000574755.5:c.178-577_228-156del | ||
| NM_001289148.1:c.159-577_209-156del | ||
| NM_001289149.1:c.-34-577_17-156del | ||
| NM_018668.4:c.240-577_290-156del , LRG_884t1:c.240-577_290-156del | ||
| XM_005254884.2:c.240-577_290-156del | ||
| XM_005254887.1:c.-34-577_17-156del | ||
| XM_005254888.2:c.240-577_290-156del | ||
| XM_011521448.1:c.-34-577_17-156del | ||
| XM_017022075.2:c.-122-577_-72-156del | ||
| XM_017022076.1:c.-122-577_-72-156del | ||
| XR_001751213.2:n.576-577_626-156del | ||
| NM_018668.5:c.240-577_290-156del |