Linked Data
ClinVar Variation Id:
372267
ClinVar RCV Id:
RCV000412668
dbSNP Id:
rs1057517692
gnomAD v2:
9-80858405-AC-A
gnomAD v4:
9-78243489-AC-A
MyVariant Identifiers:
chr9:g.80858407del (hg19)
chr9:g.80858406del (hg19)
chr9:g.78243491del (hg38)
chr9:g.78243490del (hg38)
PubMed:
PMID:27588451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78243491del , CM000671.2:g.78243491del | GRCh38 |
| NC_000009.11:g.80858407del , CM000671.1:g.80858407del | GRCh37 |
| NC_000009.10:g.80048227del | NCBI36 |
| NG_053171.1:g.12430del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376597.9:c.633del | ENSP00000365782.4:p.Trp212GlyfsTer18 | |
| ENST00000376598.3:c.633del | ENSP00000365783.3:p.Trp212GlyfsTer18 | |
| ENST00000642214.1:c.633del | ENSP00000493662.1:p.Trp212GlyfsTer18 | |
| ENST00000642654.1:c.*428del | ENSP00000495267.1:n.*428del | |
| ENST00000642669.1:c.633del | ENSP00000495681.1:p.Trp212GlyfsTer18 | |
| ENST00000643273.2:c.633del MANE Select | ENSP00000496423.2:p.Trp212GlyfsTer18 | |
| ENST00000643347.1:c.633del | ENSP00000494781.1:p.Trp212GlyfsTer18 | |
| ENST00000643499.1:c.633del | ENSP00000495962.1:p.Trp212GlyfsTer18 | |
| ENST00000643847.1:c.633del | ENSP00000494276.1:p.Trp212GlyfsTer18 | |
| ENST00000644208.1:c.633del | ENSP00000493600.1:p.Trp212GlyfsTer18 | |
| ENST00000645398.1:c.633del | ENSP00000493822.1:p.Trp212GlyfsTer18 | |
| ENST00000645865.1:c.*355del | ENSP00000494841.1:n.*355del | |
| ENST00000646288.1:c.689del | ENSP00000496131.1:n.689del | |
| ENST00000647130.1:c.668del | ENSP00000496303.1:n.668del | |
| ENST00000647199.1:c.633del | ENSP00000496384.1:p.Trp212GlyfsTer18 | |
| ENST00000277082.9:c.633del | ENSP00000277082.5:p.Trp212GlyfsTer18 | |
| ENST00000376597.8:c.633del | ENSP00000365782.4:p.Trp212GlyfsTer18 | |
| ENST00000376598.2:c.633del | ENSP00000365783.2:p.Trp212GlyfsTer18 | |
| ENST00000415759.6:c.633del | ENSP00000399286.2:p.Trp212GlyfsTer18 | |
| ENST00000424347.6:c.633del | ENSP00000411284.2:p.Trp212GlyfsTer18 | |
| ENST00000476652.2:n.463+6888del | ||
| ENST00000536374.1:n.959del | ||
| NM_001098802.1:c.633del | NP_001092272.1:p.Trp212GlyfsTer18 | |
| NM_032171.1:c.633del | NP_115547.1:p.Trp212GlyfsTer18 | |
| XM_005252263.3:c.633del | XP_005252320.1:p.Trp212GlyfsTer18 | |
| XM_005252265.1:c.633del | XP_005252322.1:p.Trp212GlyfsTer18 | |
| XM_005252266.3:c.372del | XP_005252323.1:p.Trp125GlyfsTer18 | |
| NM_001098802.2:c.633del | NP_001092272.1:p.Trp212GlyfsTer18 | |
| NM_001330691.2:c.633del | NP_001317620.1:p.Trp212GlyfsTer18 | |
| NM_001330693.2:c.633del | NP_001317622.1:p.Trp212GlyfsTer18 | |
| NM_001330694.1:c.633del | NP_001317623.1:p.Trp212GlyfsTer18 | |
| NM_001349838.1:c.633del | NP_001336767.1:p.Trp212GlyfsTer18 | |
| NM_001349839.1:c.633del | NP_001336768.1:p.Trp212GlyfsTer18 | |
| NM_001349840.1:c.633del | NP_001336769.1:p.Trp212GlyfsTer18 | |
| NM_032171.2:c.633del | NP_115547.1:p.Trp212GlyfsTer18 | |
| XM_005252266.4:c.372del | XP_005252323.1:p.Trp125GlyfsTer18 | |
| XM_017015196.1:c.372del | XP_016870685.1:p.Trp125GlyfsTer18 | |
| NM_001098802.3:c.633del | NP_001092272.1:p.Trp212GlyfsTer18 | |
| NM_001330691.3:c.633del MANE Select | NP_001317620.1:p.Trp212GlyfsTer18 | |
| NM_001330693.3:c.633del | NP_001317622.1:p.Trp212GlyfsTer18 | |
| NM_001330694.2:c.633del | NP_001317623.1:p.Trp212GlyfsTer18 | |
| NM_001349838.2:c.633del | NP_001336767.1:p.Trp212GlyfsTer18 | |
| NM_001349839.2:c.633del | NP_001336768.1:p.Trp212GlyfsTer18 | |
| NM_001349840.2:c.633del | NP_001336769.1:p.Trp212GlyfsTer18 | |
| NM_032171.3:c.633del | NP_115547.1:p.Trp212GlyfsTer18 |