Linked Data
ClinVar Variation Id:
37723
dbSNP Id:
rs80359258
ExAC:
13:32972823 CA / C
gnomAD v2:
13-32972823-CA-C
gnomAD v4:
13-32398686-CA-C
MyVariant Identifiers:
chr13:g.32972826del (hg19)
chr13:g.32972824del (hg19)
chr13:g.32398689del (hg38)
chr13:g.32398687del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398689del , CM000675.2:g.32398689del | GRCh38 |
| NC_000013.10:g.32972826del , CM000675.1:g.32972826del | GRCh37 |
| NC_000013.9:g.31870826del | NCBI36 |
| NG_012772.3:g.88210del , LRG_293:g.88210del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.*699del | ENSP00000434898.2:n.*699del | |
| ENST00000528762.2:c.*1543del | ENSP00000433168.2:n.*1543del | |
| ENST00000530893.7:c.9807del | ENSP00000499438.2:p.Glu3270AsnfsTer? | |
| ENST00000665585.2:c.*1738del | ENSP00000499570.2:n.*1738del | |
| ENST00000700202.2:c.10125del | ENSP00000514856.2:p.Glu3376AsnfsTer? | |
| ENST00000700202.1:c.2592del | ENSP00000514856.1:p.Glu865AsnfsTer? | |
| ENST00000700203.1:n.2303del | ||
| ENST00000380152.8:c.10176del MANE Select | ENSP00000369497.3:p.Glu3393AsnfsTer? | |
| ENST00000544455.6:c.10176del | ENSP00000439902.1:p.Glu3393AsnfsTer? | |
| ENST00000614259.2:c.10184del | ENSP00000506251.1:n.10184del | |
| ENST00000680887.1:c.10176del | ENSP00000505508.1:p.Glu3393AsnfsTer? | |
| ENST00000380152.7:c.10176del | ENSP00000369497.3:p.Glu3393AsnfsTer? | |
| ENST00000544455.5:c.10176del | ENSP00000439902.1:p.Glu3393AsnfsTer? | |
| NM_000059.3:c.10176del , LRG_293t1:c.10176del | NP_000050.2:p.Glu3393AsnfsTer? | |
| XM_011535203.1:c.10176del | XP_011533505.1:p.Glu3393AsnfsTer? | |
| XM_011535204.1:c.10080del | XP_011533506.1:p.Glu3361AsnfsTer? | |
| NM_000059.4:c.10176del MANE Select | NP_000050.3:p.Glu3393AsnfsTer? |