Linked Data
ClinVar Variation Id:
254207
ClinVar RCV Id:
RCV000490823
dbSNP Id:
rs1114167351
PubMed:
PMID:27799067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117512_4117514del , CM000681.2:g.4117512_4117514del | GRCh38 |
| NC_000019.9:g.4117510_4117512del , CM000681.1:g.4117510_4117512del | GRCh37 |
| NC_000019.8:g.4068510_4068512del | NCBI36 |
| NG_007996.1:g.11617_11619del , LRG_750:g.11617_11619del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.649_651del | ||
| ENST00000687128.1:n.649_651del | ||
| ENST00000262948.10:c.210_212del MANE Select | ENSP00000262948.4:p.Asp71del | |
| ENST00000262948.9:c.210_212del | ENSP00000262948.3:p.Asp71del | |
| ENST00000394867.8:c.-82_-80del | ENSP00000378336.1:n.-82_-80del | |
| ENST00000599345.1:n.407_409del | ||
| NM_030662.3:c.210_212del , LRG_750t1:c.210_212del | NP_109587.1:p.Asp71del | |
| XM_006722799.2:c.210_212del | XP_006722862.1:p.Asp71del | |
| XM_017026989.1:c.210_212del | XP_016882478.1:p.Asp71del | |
| XM_017026990.1:c.210_212del | XP_016882479.1:p.Asp71del | |
| XM_017026991.1:c.210_212del | XP_016882480.1:p.Asp71del | |
| NM_030662.4:c.210_212del MANE Select | NP_109587.1:p.Asp71del |