Linked Data
ClinVar Variation Id:
38260
ClinVar RCV Id:
RCV000031843
RCV000168365
RCV000200978
RCV000590308
RCV000771139
RCV000770914
RCV001262735
RCV001353983
RCV004528146
dbSNP Id:
rs80359775
ExAC:
13:32972346 TTGTA / T
gnomAD v2:
13-32972346-TTGTA-T
gnomAD v3:
13-32398209-TTGTA-T
gnomAD v4:
13-32398209-TTGTA-T
MyVariant Identifiers:
chr13:g.32972349_32972352del (hg19)
chr13:g.32972347_32972350del (hg19)
chr13:g.32398212_32398215del (hg38)
chr13:g.32398211_32398214del (hg38)
chr13:g.32398210_32398213del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398212_32398215del , CM000675.2:g.32398212_32398215del | GRCh38 |
| NC_000013.10:g.32972349_32972352del , CM000675.1:g.32972349_32972352del | GRCh37 |
| NC_000013.9:g.31870349_31870352del | NCBI36 |
| NG_012772.3:g.87733_87736del , LRG_293:g.87733_87736del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*222_*225del | ENSP00000434898.2:n.*222_*225del | |
| ENST00000528762.2:c.*1066_*1069del | ENSP00000433168.2:n.*1066_*1069del | |
| ENST00000530893.7:c.9330_9333del | ENSP00000499438.2:p.Cys3110TrpfsTer15 | |
| ENST00000665585.2:c.*1261_*1264del | ENSP00000499570.2:n.*1261_*1264del | |
| ENST00000700202.2:c.9648_9651del | ENSP00000514856.2:p.Cys3216TrpfsTer15 | |
| ENST00000700202.1:c.2115_2118del | ENSP00000514856.1:p.Cys705TrpfsTer15 | |
| ENST00000700203.1:n.1826_1829del | ||
| ENST00000380152.8:c.9699_9702del MANE Select | ENSP00000369497.3:p.Cys3233TrpfsTer15 | |
| ENST00000544455.6:c.9699_9702del | ENSP00000439902.1:p.Cys3233TrpfsTer15 | |
| ENST00000614259.2:c.9707_9710del | ENSP00000506251.1:n.9707_9710del | |
| ENST00000665585.1:c.2577_2580del | ||
| ENST00000680887.1:c.9699_9702del | ENSP00000505508.1:p.Cys3233TrpfsTer15 | |
| ENST00000380152.7:c.9699_9702del | ENSP00000369497.3:p.Cys3233TrpfsTer15 | |
| ENST00000470094.1:c.782_785del | ||
| ENST00000533776.1:n.287_290del | ||
| ENST00000544455.5:c.9699_9702del | ENSP00000439902.1:p.Cys3233TrpfsTer15 | |
| NM_000059.3:c.9699_9702del , LRG_293t1:c.9699_9702del | NP_000050.2:p.Cys3233TrpfsTer15 | |
| XM_011535203.1:c.9699_9702del | XP_011533505.1:p.Cys3233TrpfsTer15 | |
| XM_011535204.1:c.9603_9606del | XP_011533506.1:p.Cys3201TrpfsTer15 | |
| NM_000059.4:c.9699_9702del MANE Select | NP_000050.3:p.Cys3233TrpfsTer15 |