Linked Data
ClinVar Variation Id:
2643010
dbSNP Id:
rs201146279
ExAC:
12:52680031 TG / T
gnomAD v2:
12-52680031-TG-T
gnomAD v3:
12-52286247-TG-T
gnomAD v4:
12-52286247-TG-T
MyVariant Identifiers:
chr12:g.52680032del (hg19)
chr12:g.52286249del (hg38)
chr12:g.52286248del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52286251del , CM000674.2:g.52286251del | GRCh38 |
| NC_000012.11:g.52680035del , CM000674.1:g.52680035del | GRCh37 |
| NC_000012.10:g.50966302del | NCBI36 |
| NG_008184.1:g.10268del | |
| NG_008086.2:g.16607del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423955.7:c.-5+10305del (KRT86) MANE Select | ENSP00000444533.1:n.-5+10305del | |
| ENST00000327741.9:c.*7del (KRT81) MANE Select | ENSP00000369349.4:n.*7del | |
| ENST00000423955.6:c.-5+10305del (KRT86) | ENSP00000444533.1:n.-5+10305del | |
| ENST00000553310.6:c.-4-15662del (KRT86) | ENSP00000452237.3:n.-4-15662del | |
| NM_002281.3:c.*7del (KRT81) | NP_002272.2:n.*7del | |
| XM_005268866.3:c.129+10305del (KRT86) | XP_005268923.1:n.129+10305del | |
| XM_011538334.1:c.*7del (KRT81) | XP_011536636.1:n.*7del | |
| XM_011538336.1:c.-5+10305del (KRT86) | XP_011536638.1:n.-5+10305del | |
| XM_011538337.1:c.-5+10305del (KRT86) | XP_011536639.1:n.-5+10305del | |
| XM_011538338.1:c.-5+10305del (KRT86) | XP_011536640.1:n.-5+10305del | |
| NM_001320198.1:c.-5+10305del (KRT86) | NP_001307127.1:n.-5+10305del | |
| XM_005268866.4:c.129+10305del (KRT86) | XP_005268923.1:n.129+10305del | |
| XM_017019296.1:c.-103+10305del (KRT86) | XP_016874785.1:n.-103+10305del | |
| NM_001320198.2:c.-5+10305del (KRT86) MANE Select | NP_001307127.1:n.-5+10305del | |
| NM_002281.4:c.*7del (KRT81) MANE Select | NP_002272.2:n.*7del |