Linked Data
ClinVar Variation Id:
372652
ClinVar RCV Id:
RCV000414571
dbSNP Id:
rs1057517906
COSMIC:
COSM1638652
MyVariant Identifiers:
chr10:g.76788961del (hg19)
chr10:g.76788956del (hg19)
chr10:g.75029203del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.75029203del , CM000672.2:g.75029203del | GRCh38 |
| NC_000010.10:g.76788961del , CM000672.1:g.76788961del | GRCh37 |
| NC_000010.9:g.76458967del | NCBI36 |
| NG_032048.1:g.207791del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287239.10:c.4379del (KAT6B) MANE Select | ENSP00000287239.4:p.Leu1460Ter | |
| ENST00000372711.2:c.3830del (KAT6B) | ENSP00000361796.1:p.Leu1277Ter | |
| ENST00000372714.6:c.3503del (KAT6B) | ENSP00000361799.1:p.Leu1168Ter | |
| ENST00000372724.6:c.3830del (KAT6B) | ENSP00000361809.2:p.Leu1277Ter | |
| ENST00000372725.6:c.3503del (KAT6B) | ENSP00000361810.1:p.Leu1168Ter | |
| ENST00000648725.1:c.4379del (KAT6B) | ENSP00000497841.1:p.Leu1460Ter | |
| ENST00000648892.1:c.3503del (KAT6B) | ENSP00000497048.1:p.Leu1168Ter | |
| ENST00000649006.1:c.3503del (KAT6B) | ENSP00000498139.1:p.Leu1168Ter | |
| ENST00000649463.1:c.4379del (KAT6B) | ENSP00000497166.1:p.Leu1460Ter | |
| ENST00000287239.8:c.4379del (KAT6B) | ENSP00000287239.4:p.Leu1460Ter | |
| ENST00000372711.1:c.3830del (KAT6B) | ENSP00000361796.1:p.Leu1277Ter | |
| ENST00000372714.5:c.3503del (KAT6B) | ENSP00000361799.1:p.Leu1168Ter | |
| ENST00000372724.5:c.3503del (KAT6B) | ENSP00000361809.1:p.Leu1168Ter | |
| ENST00000372725.5:c.3503del (KAT6B) | ENSP00000361810.1:p.Leu1168Ter | |
| NM_001256468.1:c.3830del (KAT6B) | NP_001243397.1:p.Leu1277Ter | |
| NM_001256469.1:c.3503del (KAT6B) | NP_001243398.1:p.Leu1168Ter | |
| NM_012330.3:c.4379del (KAT6B) | NP_036462.2:p.Leu1460Ter | |
| XM_005269664.2:c.4379del (KAT6B) | XP_005269721.1:p.Leu1460Ter | |
| XR_946064.1:n.577-2604del | ||
| XM_011539747.2:c.*3622-2604del (DUSP29) | XP_011538049.1:n.*3622-2604del | |
| XM_017016000.2:c.4379del (KAT6B) | XP_016871489.1:p.Leu1460Ter | |
| XM_017016002.1:c.4379del (KAT6B) | XP_016871491.1:p.Leu1460Ter | |
| XM_017016003.1:c.4379del (KAT6B) | XP_016871492.1:p.Leu1460Ter | |
| XM_017016004.2:c.4217del (KAT6B) | XP_016871493.1:p.Leu1406Ter | |
| XM_017016005.2:c.3830del (KAT6B) | XP_016871494.1:p.Leu1277Ter | |
| XM_017016006.2:c.3503del (KAT6B) | XP_016871495.1:p.Leu1168Ter | |
| XM_017016008.2:c.3503del (KAT6B) | XP_016871497.1:p.Leu1168Ter | |
| XM_017016009.1:c.3341del (KAT6B) | XP_016871498.1:p.Leu1114Ter | |
| NM_012330.4:c.4379del (KAT6B) MANE Select | NP_036462.2:p.Leu1460Ter | |
| NM_001370132.1:c.3341del (KAT6B) | NP_001357061.1:p.Leu1114Ter | |
| NM_001370133.1:c.2690del (KAT6B) | NP_001357062.1:p.Leu897Ter | |
| NM_001370134.1:c.2294del (KAT6B) | NP_001357063.1:p.Leu765Ter | |
| NM_001370135.1:c.2036del (KAT6B) | NP_001357064.1:p.Leu679Ter | |
| NM_001370136.1:c.4379del (KAT6B) | NP_001357065.1:p.Leu1460Ter | |
| NM_001370137.1:c.4379del (KAT6B) | NP_001357066.1:p.Leu1460Ter | |
| NM_001370138.1:c.3830del (KAT6B) | NP_001357067.1:p.Leu1277Ter | |
| NM_001370139.1:c.3503del (KAT6B) | NP_001357068.1:p.Leu1168Ter | |
| NM_001370140.1:c.3503del (KAT6B) | NP_001357069.1:p.Leu1168Ter | |
| NM_001370141.1:c.3503del (KAT6B) | NP_001357070.1:p.Leu1168Ter | |
| NM_001370142.1:c.3503del (KAT6B) | NP_001357071.1:p.Leu1168Ter | |
| NM_001370143.1:c.3314del (KAT6B) | NP_001357072.1:p.Leu1105Ter | |
| NM_001370144.1:c.3314del (KAT6B) | NP_001357073.1:p.Leu1105Ter | |
| NM_001256468.2:c.3830del (KAT6B) | NP_001243397.1:p.Leu1277Ter | |
| NM_001256469.2:c.3503del (KAT6B) | NP_001243398.1:p.Leu1168Ter |