Linked Data
ClinVar Variation Id:
66160
ClinVar RCV Id:
RCV000056475
dbSNP Id:
rs267607377
MyVariant Identifiers:
chr17:g.38975860_38975861delinsTT (hg19)
chr17:g.40819608_40819609delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40819608_40819609delinsTT , CM000679.2:g.40819608_40819609delinsTT | GRCh38 |
| NC_000017.10:g.38975860_38975861delinsTT , CM000679.1:g.38975860_38975861delinsTT | GRCh37 |
| NC_000017.9:g.36229386_36229387delinsTT | NCBI36 |
| NG_008405.1:g.8003_8004delinsAA | |
| NG_033147.1:g.5517_5518delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269576.6:c.1281_1282delinsAA (KRT10) MANE Select | ENSP00000269576.5:p.Cys427Ter | |
| ENST00000635956.2:c.1281_1282delinsAA (KRT10) | ENSP00000490524.2:p.Cys427Ter | |
| ENST00000269576.5:c.1281_1282delinsAA (KRT10) | ENSP00000269576.5:p.Cys427Ter | |
| ENST00000301665.7:c.-221+400_-221+401delinsTT (KRT10-AS1) | ENSP00000301665.3:n.-221+400_-221+401deli... | |
| ENST00000436612.5:c.-221+438_-221+439delinsTT (KRT10-AS1) | ENSP00000390036.1:n.-221+438_-221+439deli... | |
| ENST00000496847.1:n.49+400_49+401delinsTT (KRT10-AS1) | ||
| ENST00000622451.1:c.-221+329_-221+330delinsTT (KRT10-AS1) | ENSP00000482364.1:n.-221+329_-221+330deli... | |
| NM_000421.3:c.1281_1282delinsAA (KRT10) | NP_000412.3:p.Cys427Ter | |
| NM_001195386.1:c.-221+329_-221+330delinsTT (KRT10-AS1) | NP_001182315.1:n.-221+329_-221+330delinsT... | |
| NM_001195387.1:c.-221+438_-221+439delinsTT (KRT10-AS1) | NP_001182316.1:n.-221+438_-221+439delinsT... | |
| NM_145274.3:c.-221+400_-221+401delinsTT (KRT10-AS1) | NP_660317.2:n.-221+400_-221+401delinsTT | |
| XM_005257343.2:c.1281_1282delinsAA (KRT10) | XP_005257400.1:p.Cys427Ter | |
| XM_005257089.4:c.-461+400_-461+401delinsTT (KRT10-AS1) | XP_005257146.1:n.-461+400_-461+401delinsT... | |
| XM_005257343.3:c.1281_1282delinsAA (KRT10) | XP_005257400.1:p.Cys427Ter | |
| XM_017024253.1:c.-414+400_-414+401delinsTT (KRT10-AS1) | XP_016879742.1:n.-414+400_-414+401delinsT... | |
| NM_000421.4:c.1281_1282delinsAA (KRT10) | NP_000412.3:p.Cys427Ter | |
| NR_160886.1:n.95+329_95+330delinsTT (KRT10-AS1) | ||
| NR_160887.1:n.26+438_26+439delinsTT (KRT10-AS1) | ||
| NR_160888.1:n.64+400_64+401delinsTT (KRT10-AS1) | ||
| NM_000421.5:c.1281_1282delinsAA (KRT10) MANE Select | NP_000412.4:p.Cys427Ter | |
| NM_001379366.1:c.1281_1282delinsAA (KRT10) | NP_001366295.1:p.Cys427Ter |