Linked Data
ClinVar Variation Id:
420655
ClinVar RCV Id:
RCV000481901
dbSNP Id:
rs762815401
ExAC:
13:32920932 CTAATATG / C
gnomAD v2:
13-32920932-CTAATATG-C
gnomAD v3:
13-32346795-CTAATATG-C
gnomAD v4:
13-32346795-CTAATATG-C
MyVariant Identifiers:
chr13:g.32920939_32920945del (hg19)
chr13:g.32920933_32920939del (hg19)
chr13:g.32346802_32346808del (hg38)
chr13:g.32346796_32346802del (hg38)
PubMed:
PMID:14973102
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32346802_32346808del , CM000675.2:g.32346802_32346808del | GRCh38 |
| NC_000013.10:g.32920939_32920945del , CM000675.1:g.32920939_32920945del | GRCh37 |
| NC_000013.9:g.31818939_31818945del | NCBI36 |
| NG_012772.3:g.36323_36329del , LRG_293:g.36323_36329del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.6938-25_6938-19del | ENSP00000434898.2:n.6938-25_6938-19del | |
| ENST00000528762.2:c.6938-25_6938-19del | ENSP00000433168.2:n.6938-25_6938-19del | |
| ENST00000530893.7:c.6569-25_6569-19del | ENSP00000499438.2:n.6569-25_6569-19del | |
| ENST00000665585.2:c.6938-25_6938-19del | ENSP00000499570.2:n.6938-25_6938-19del | |
| ENST00000666593.2:c.6938-25_6938-19del | ENSP00000499256.2:n.6938-25_6938-19del | |
| ENST00000700202.2:c.6938-25_6938-19del | ENSP00000514856.2:n.6938-25_6938-19del | |
| ENST00000380152.8:c.6938-25_6938-19del MANE Select | ENSP00000369497.3:n.6938-25_6938-19del | |
| ENST00000544455.6:c.6938-25_6938-19del | ENSP00000439902.1:n.6938-25_6938-19del | |
| ENST00000614259.2:c.6938-25_6938-19del | ENSP00000506251.1:n.6938-25_6938-19del | |
| ENST00000680887.1:c.6938-25_6938-19del | ENSP00000505508.1:n.6938-25_6938-19del | |
| ENST00000380152.7:c.6938-25_6938-19del | ENSP00000369497.3:n.6938-25_6938-19del | |
| ENST00000544455.5:c.6938-25_6938-19del | ENSP00000439902.1:n.6938-25_6938-19del | |
| ENST00000614259.1:n.6938-25_6938-19del | ||
| NM_000059.3:c.6938-25_6938-19del , LRG_293t1:c.6938-25_6938-19del | NP_000050.2:n.6938-25_6938-19del | |
| XM_011535203.1:c.6938-25_6938-19del | XP_011533505.1:n.6938-25_6938-19del | |
| XM_011535204.1:c.6842-25_6842-19del | XP_011533506.1:n.6842-25_6842-19del | |
| XM_011535205.1:c.6938-25_6938-19del | XP_011533507.1:n.6938-25_6938-19del | |
| NM_000059.4:c.6938-25_6938-19del MANE Select | NP_000050.3:n.6938-25_6938-19del |