Linked Data
ClinVar Variation Id:
305339
dbSNP Id:
rs142614068
ExAC:
11:65486305 T / TA
gnomAD v2:
11-65486305-T-TA
gnomAD v3:
11-65718834-T-TA
gnomAD v4:
11-65718834-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65718837dup , CM000673.2:g.65718837dup | GRCh38 |
| NC_000011.9:g.65486308dup , CM000673.1:g.65486308dup | GRCh37 |
| NC_000011.8:g.65242884dup | NCBI36 |
| NG_008976.2:g.7104dup , LRG_280:g.7104dup | |
| NG_033057.1:g.11836dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.*948dup (RNASEH2C) MANE Select | ENSP00000308193.5:n.*948dup | |
| ENST00000341318.9:c.1425-36dup (KAT5) MANE Select | ENSP00000340330.4:n.1425-36dup | |
| ENST00000528220.2:n.1672dup (RNASEH2C) | ||
| ENST00000531596.6:c.*424dup (RNASEH2C) | ENSP00000435717.2:n.*424dup | |
| ENST00000534482.6:c.*948dup (RNASEH2C) | ENSP00000432081.2:n.*948dup | |
| ENST00000642430.1:n.812dup (RNASEH2C) | ||
| ENST00000643214.1:n.1517dup (RNASEH2C) | ||
| ENST00000644142.1:c.*103-13dup (RNASEH2C) | ENSP00000493695.1:n.*103-13dup | |
| ENST00000644198.1:n.494+846dup (RNASEH2C) | ||
| ENST00000646597.1:n.534+846dup (RNASEH2C) | ||
| ENST00000308418.8:c.*948dup (RNASEH2C) | ENSP00000308193.4:n.*948dup | |
| ENST00000341318.8:c.1425-36dup (KAT5) | ENSP00000340330.4:n.1425-36dup | |
| ENST00000352980.8:c.1170-36dup (KAT5) | ENSP00000344955.4:n.1170-36dup | |
| ENST00000377046.7:c.1326-36dup (KAT5) | ENSP00000366245.3:n.1326-36dup | |
| ENST00000525600.1:n.407-36dup (KAT5) | ||
| ENST00000530446.5:c.1269-36dup (KAT5) | ENSP00000434765.1:n.1269-36dup | |
| ENST00000531596.5:c.900dup (RNASEH2C) | ||
| ENST00000533596.1:c.71-36dup (KAT5) | ||
| ENST00000533698.5:c.477-66dup (RNASEH2C) | ||
| ENST00000534482.5:c.491+846dup (RNASEH2C) | ||
| ENST00000534650.5:c.693-36dup (KAT5) | ENSP00000431819.1:n.693-36dup | |
| NM_001206833.1:c.1269-36dup (KAT5) | NP_001193762.1:n.1269-36dup | |
| NM_006388.3:c.1326-36dup (KAT5) | NP_006379.2:n.1326-36dup | |
| NM_032193.3:c.*948dup , LRG_280t1:c.*948dup (RNASEH2C) | NP_115569.2:n.*948dup | |
| NM_182709.2:c.1170-36dup (KAT5) | NP_874368.1:n.1170-36dup | |
| NM_182710.2:c.1425-36dup (KAT5) | NP_874369.1:n.1425-36dup | |
| XM_006718421.1:c.1353-36dup (KAT5) | XP_006718484.1:n.1353-36dup | |
| XM_006718421.3:c.1353-36dup (KAT5) | XP_006718484.1:n.1353-36dup | |
| XR_001747726.2:n.1607-36dup (KAT5) | ||
| XR_001747727.2:n.1572-36dup (KAT5) | ||
| XR_001747728.1:n.1288-36dup (KAT5) | ||
| XR_002957116.1:n.3167-36dup (KAT5) | ||
| NM_182710.3:c.1425-36dup (KAT5) MANE Select | NP_874369.1:n.1425-36dup | |
| NM_001206833.2:c.1269-36dup (KAT5) | NP_001193762.1:n.1269-36dup | |
| NM_006388.4:c.1326-36dup (KAT5) | NP_006379.2:n.1326-36dup | |
| NM_032193.4:c.*948dup (RNASEH2C) MANE Select | NP_115569.2:n.*948dup | |
| NM_182709.3:c.1170-36dup (KAT5) | NP_874368.1:n.1170-36dup |