Linked Data
ClinVar Variation Id:
51929
dbSNP Id:
rs397507803
ExAC:
13:32914244 CAT / C
gnomAD v2:
13-32914244-CAT-C
gnomAD v3:
13-32340107-CAT-C
gnomAD v4:
13-32340107-CAT-C
MyVariant Identifiers:
chr13:g.32914246_32914247del (hg19)
chr13:g.32914245_32914246del (hg19)
chr13:g.32340109_32340110del (hg38)
chr13:g.32340108_32340109del (hg38)
PubMed:
PMID:21318380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32340109_32340110del , CM000675.2:g.32340109_32340110del | GRCh38 |
| NC_000013.10:g.32914246_32914247del , CM000675.1:g.32914246_32914247del | GRCh37 |
| NC_000013.9:g.31812246_31812247del | NCBI36 |
| NG_012772.3:g.29630_29631del , LRG_293:g.29630_29631del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.5754_5755del | ENSP00000434898.2:p.His1918GlnfsTer5 | |
| ENST00000528762.2:c.5754_5755del | ENSP00000433168.2:p.His1918GlnfsTer5 | |
| ENST00000530893.7:c.5385_5386del | ENSP00000499438.2:p.His1795GlnfsTer5 | |
| ENST00000665585.2:c.5754_5755del | ENSP00000499570.2:p.His1918GlnfsTer5 | |
| ENST00000666593.2:c.5754_5755del | ENSP00000499256.2:p.His1918GlnfsTer5 | |
| ENST00000700202.2:c.5754_5755del | ENSP00000514856.2:p.His1918GlnfsTer5 | |
| ENST00000380152.8:c.5754_5755del MANE Select | ENSP00000369497.3:p.His1918GlnfsTer5 | |
| ENST00000544455.6:c.5754_5755del | ENSP00000439902.1:p.His1918GlnfsTer5 | |
| ENST00000614259.2:c.5754_5755del | ENSP00000506251.1:p.His1918GlnfsTer5 | |
| ENST00000680887.1:c.5754_5755del | ENSP00000505508.1:p.His1918GlnfsTer5 | |
| ENST00000380152.7:c.5754_5755del | ENSP00000369497.3:p.His1918GlnfsTer5 | |
| ENST00000544455.5:c.5754_5755del | ENSP00000439902.1:p.His1918GlnfsTer5 | |
| ENST00000614259.1:n.5754_5755del | ||
| NM_000059.3:c.5754_5755del , LRG_293t1:c.5754_5755del | NP_000050.2:p.His1918GlnfsTer5 | |
| XM_011535203.1:c.5754_5755del | XP_011533505.1:p.His1918GlnfsTer5 | |
| XM_011535204.1:c.5754_5755del | XP_011533506.1:p.His1918GlnfsTer5 | |
| XM_011535205.1:c.5754_5755del | XP_011533507.1:p.His1918GlnfsTer5 | |
| NM_000059.4:c.5754_5755del MANE Select | NP_000050.3:p.His1918GlnfsTer5 |