Linked Data
ClinVar Variation Id:
54718
ClinVar RCV Id:
RCV000111964
dbSNP Id:
rs80357611
PubMed:
PMID:9429140
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092612_43092613del , CM000679.2:g.43092612_43092613del | GRCh38 |
| NC_000017.10:g.41244629_41244630del , CM000679.1:g.41244629_41244630del | GRCh37 |
| NC_000017.9:g.38498155_38498156del | NCBI36 |
| NG_005905.2:g.125373_125374del , LRG_292:g.125373_125374del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.2984_2985del | ||
| ENST00000461574.2:c.2920_2921del | ENSP00000417241.2:p.Leu974ThrfsTer17 | |
| ENST00000470026.6:c.2920_2921del | ENSP00000419274.2:p.Leu974ThrfsTer17 | |
| ENST00000473961.6:c.2794_2795del | ENSP00000420201.2:p.Leu932ThrfsTer17 | |
| ENST00000476777.6:c.2917_2918del | ENSP00000417554.2:p.Leu973ThrfsTer17 | |
| ENST00000477152.6:c.2842_2843del | ENSP00000419988.2:p.Leu948ThrfsTer17 | |
| ENST00000478531.6:c.785-1579_785-1578del | ENSP00000420412.2:n.785-1579_785-1578del | |
| ENST00000489037.2:c.2842_2843del | ENSP00000420781.2:p.Leu948ThrfsTer17 | |
| ENST00000493919.6:c.647-1579_647-1578del | ENSP00000418819.2:n.647-1579_647-1578del | |
| ENST00000494123.6:c.2920_2921del | ENSP00000419103.2:p.Leu974ThrfsTer17 | |
| ENST00000497488.2:c.2032_2033del | ENSP00000418986.2:p.Leu678ThrfsTer17 | |
| ENST00000618469.2:c.2920_2921del | ENSP00000478114.2:p.Leu974ThrfsTer17 | |
| ENST00000634433.2:c.2797_2798del | ENSP00000489431.2:p.Leu933ThrfsTer17 | |
| ENST00000644379.2:c.2920_2921del | ENSP00000496570.2:p.Leu974ThrfsTer17 | |
| ENST00000644555.2:c.647-1579_647-1578del | ENSP00000494614.2:n.647-1579_647-1578del | |
| ENST00000652672.2:c.2779_2780del | ENSP00000498906.2:p.Leu927ThrfsTer17 | |
| ENST00000484087.6:c.665-1579_665-1578del | ENSP00000419481.2:n.665-1579_665-1578del | |
| ENST00000700182.1:c.707-1579_707-1578del | ENSP00000514849.1:n.707-1579_707-1578del | |
| ENST00000357654.9:c.2920_2921del MANE Select | ENSP00000350283.3:p.Leu974ThrfsTer17 | |
| ENST00000471181.7:c.2920_2921del | ENSP00000418960.2:p.Leu974ThrfsTer17 | |
| ENST00000352993.7:c.671-1579_671-1578del | ENSP00000312236.5:n.671-1579_671-1578del | |
| ENST00000354071.7:c.2920_2921del | ENSP00000326002.7:p.Leu974ThrfsTer17 | |
| ENST00000357654.7:c.2920_2921del | ENSP00000350283.3:p.Leu974ThrfsTer17 | |
| ENST00000461221.5:c.*2703_*2704del | ENSP00000418548.1:n.*2703_*2704del | |
| ENST00000468300.5:c.788-1579_788-1578del | ENSP00000417148.1:n.788-1579_788-1578del | |
| ENST00000471181.6:c.2920_2921del | ENSP00000418960.2:p.Leu974ThrfsTer17 | |
| ENST00000478531.5:c.785-1579_785-1578del | ENSP00000420412.1:n.785-1579_785-1578del | |
| ENST00000484087.5:c.410-1579_410-1578del | ENSP00000419481.1:n.410-1579_410-1578del | |
| ENST00000487825.5:c.413-1579_413-1578del | ENSP00000418212.1:n.413-1579_413-1578del | |
| ENST00000491747.6:c.788-1579_788-1578del | ENSP00000420705.2:n.788-1579_788-1578del | |
| ENST00000493795.5:c.2779_2780del | ENSP00000418775.1:p.Leu927ThrfsTer17 | |
| ENST00000493919.5:c.647-1579_647-1578del | ENSP00000418819.1:n.647-1579_647-1578del | |
| ENST00000586385.5:c.5-28660_5-28659del | ENSP00000465818.1:n.5-28660_5-28659del | |
| ENST00000591534.5:c.-43-18090_-43-18089del | ENSP00000467329.1:n.-43-18090_-43-18089del | |
| ENST00000591849.5:c.-99+32660_-99+32661del | ENSP00000465347.1:n.-99+32660_-99+32661del | |
| NM_007294.3:c.2920_2921del , LRG_292t1:c.2920_2921del | NP_009225.1:p.Leu974ThrfsTer17 | |
| NM_007297.3:c.2779_2780del | NP_009228.2:p.Leu927ThrfsTer17 | |
| NM_007298.3:c.788-1579_788-1578del | NP_009229.2:n.788-1579_788-1578del | |
| NM_007299.3:c.788-1579_788-1578del | NP_009230.2:n.788-1579_788-1578del | |
| NM_007300.3:c.2920_2921del | NP_009231.2:p.Leu974ThrfsTer17 | |
| NR_027676.1:n.3056_3057del | ||
| NM_007294.4:c.2920_2921del MANE Select | NP_009225.1:p.Leu974ThrfsTer17 | |
| NM_007297.4:c.2779_2780del | NP_009228.2:p.Leu927ThrfsTer17 | |
| NM_007299.4:c.788-1579_788-1578del | NP_009230.2:n.788-1579_788-1578del | |
| NM_007300.4:c.2920_2921del | NP_009231.2:p.Leu974ThrfsTer17 | |
| NR_027676.2:n.3097_3098del |