Linked Data
ClinVar Variation Id:
374928
ClinVar RCV Id:
RCV000415582
dbSNP Id:
rs1057519310
PubMed:
PMID:27431290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9139724del , CM000673.2:g.9139724del | GRCh38 |
| NC_000011.9:g.9161271del , CM000673.1:g.9161271del | GRCh37 |
| NC_000011.8:g.9117847del | NCBI36 |
| NG_053019.1:g.130612del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328194.8:c.3811del MANE Select | ENSP00000328524.3:p.Gln1271ArgfsTer? | |
| ENST00000525784.6:n.1673del | ||
| ENST00000530780.2:c.*3637del | ENSP00000433925.1:n.*3637del | |
| ENST00000531747.2:n.3482del | ||
| ENST00000679446.1:n.5817del | ||
| ENST00000679458.1:n.5212del | ||
| ENST00000679460.1:n.4873del | ||
| ENST00000679568.1:c.3871del | ENSP00000505860.1:p.Gln1291ArgfsTer? | |
| ENST00000679745.1:n.4316del | ||
| ENST00000679773.1:n.2972del | ||
| ENST00000679926.1:n.5113del | ||
| ENST00000679999.1:c.*868del | ENSP00000505198.1:n.*868del | |
| ENST00000680252.1:c.3478del | ||
| ENST00000680294.1:c.3604del | ENSP00000506113.1:p.Gln1202ArgfsTer? | |
| ENST00000680358.1:n.3110del | ||
| ENST00000680470.1:c.*1592del | ENSP00000505975.1:n.*1592del | |
| ENST00000680554.1:c.*344del | ENSP00000505621.1:n.*344del | |
| ENST00000680576.1:n.7372del | ||
| ENST00000680599.1:n.3852del | ||
| ENST00000680742.1:c.*310del | ENSP00000505206.1:n.*310del | |
| ENST00000680791.1:n.2695del | ||
| ENST00000680885.1:n.5513del | ||
| ENST00000681158.1:c.3395del | ||
| ENST00000681203.1:c.3739del | ENSP00000506456.1:p.Gln1247ArgfsTer? | |
| ENST00000681371.1:n.3683del | ||
| ENST00000681425.1:n.4289del | ||
| ENST00000681639.1:n.2090del | ||
| ENST00000328194.7:c.3811del | ENSP00000328524.3:p.Gln1271ArgfsTer? | |
| ENST00000525784.5:c.747del | ||
| ENST00000527700.5:n.3373del | ||
| ENST00000528725.5:c.507del | ||
| ENST00000529977.5:n.1712del | ||
| ENST00000530044.5:c.*51del | ENSP00000435866.1:n.*51del | |
| ENST00000533737.5:c.534del | ||
| NM_001243254.1:c.*51del | NP_001230183.1:n.*51del | |
| NM_015213.3:c.3811del | NP_056028.2:p.Gln1271ArgfsTer? | |
| XM_005252832.1:c.3871del | XP_005252889.1:p.Gln1291ArgfsTer? | |
| XM_011519953.1:c.1969del | XP_011518255.1:p.Gln657ArgfsTer? | |
| XR_242782.2:n.3993del | ||
| XR_930851.1:n.3959del | ||
| NM_001348749.1:c.3739del | NP_001335678.1:p.Gln1247ArgfsTer? | |
| NM_001348750.1:c.3523del | NP_001335679.1:p.Gln1175ArgfsTer? | |
| NR_145966.2:n.3985del | ||
| NM_015213.4:c.3811del MANE Select | NP_056028.2:p.Gln1271ArgfsTer? | |
| NM_001243254.2:c.*51del | NP_001230183.1:n.*51del | |
| NM_001348749.2:c.3739del | NP_001335678.1:p.Gln1247ArgfsTer? | |
| NM_001348750.2:c.3523del | NP_001335679.1:p.Gln1175ArgfsTer? |