Canonical Allele Identifier: CA2573053502
Community Standard Title: NM_001352027.3(PHF21A):c.1704_1705del (p.Lys569ValfsTer3)
Gene: PHF21A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45935720_45935721del , CM000673.2:g.45935720_45935721del GRCh38
NC_000011.9:g.45957271_45957272del , CM000673.1:g.45957271_45957272del GRCh37
NC_000011.8:g.45913847_45913848del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001352027.3:c.1704_1705del MANE Select NP_001338956.1:p.Lys569ValfsTer3
ENST00000676320.1:c.1704_1705del MANE Select ENSP00000502222.1:p.Lys569ValfsTer3
NM_001101802.1:c.1701_1702del NP_001095272.1:p.Lys568ValfsTer3
NM_001101802.2:c.1701_1702del NP_001095272.1:p.Lys568ValfsTer3
NM_001101802.3:c.1701_1702del NP_001095272.1:p.Lys568ValfsTer3
NM_001352025.1:c.1704_1705del NP_001338954.1:p.Lys569ValfsTer3
NM_001352025.2:c.1704_1705del NP_001338954.1:p.Lys569ValfsTer3
NM_001352025.3:c.1704_1705del NP_001338954.1:p.Lys569ValfsTer3
NM_001352026.1:c.1704_1705del NP_001338955.1:p.Lys569ValfsTer3
NM_001352026.2:c.1704_1705del NP_001338955.1:p.Lys569ValfsTer3
NM_001352026.3:c.1704_1705del NP_001338955.1:p.Lys569ValfsTer3
NM_001352027.1:c.1704_1705del NP_001338956.1:p.Lys569ValfsTer3
NM_001352027.2:c.1704_1705del NP_001338956.1:p.Lys569ValfsTer3
NM_001352028.1:c.1563_1564del NP_001338957.1:p.Lys522ValfsTer3
NM_001352029.1:c.1563_1564del NP_001338958.1:p.Lys522ValfsTer3
NM_001352030.1:c.1560_1561del NP_001338959.1:p.Lys521ValfsTer3
NM_001352030.2:c.1560_1561del NP_001338959.1:p.Lys521ValfsTer3
NM_001352030.3:c.1560_1561del NP_001338959.1:p.Lys521ValfsTer3
NM_001352031.1:c.1560_1561del NP_001338960.1:p.Lys521ValfsTer3
NM_001352031.2:c.1560_1561del NP_001338960.1:p.Lys521ValfsTer3
NM_001352031.3:c.1560_1561del NP_001338960.1:p.Lys521ValfsTer3
NM_001352032.1:c.1560_1561del NP_001338961.1:p.Lys521ValfsTer3
NM_001352032.2:c.1560_1561del NP_001338961.1:p.Lys521ValfsTer3
NM_001352032.3:c.1560_1561del NP_001338961.1:p.Lys521ValfsTer3
NM_016621.3:c.1563_1564del NP_057705.3:p.Lys522ValfsTer3
NM_016621.4:c.1563_1564del NP_057705.3:p.Lys522ValfsTer3
NM_016621.5:c.1563_1564del NP_057705.3:p.Lys522ValfsTer3
NR_147890.1:n.2187_2188del
NR_147890.2:n.1738_1739del
NR_147890.3:n.2207_2208del
NR_165446.1:n.2443_2444del
ENST00000323180.10:c.1563_1564del ENSP00000323152.6:p.Lys522ValfsTer3
ENST00000418153.6:c.1701_1702del ENSP00000398824.2:p.Lys568ValfsTer3
ENST00000525676.5:c.34_35del
ENST00000525676.6:c.1560_1561del ENSP00000431964.2:p.Lys521ValfsTer3
ENST00000527401.5:n.2557_2558del
ENST00000530587.5:c.204_205del ENSP00000435984.1:p.Lys69ValfsTer3
ENST00000530587.6:c.1563_1564del ENSP00000435984.2:p.Lys522ValfsTer3
ENST00000532028.1:c.126_127del ENSP00000431621.1:p.Lys43ValfsTer3
ENST00000534724.1:n.364_365del
ENST00000686153.1:n.3283_3284del
ENST00000688604.1:n.1696_1697del
ENST00000689695.1:n.2740_2741del
ENST00000690620.1:c.1563_1564del ENSP00000508589.1:p.Lys522ValfsTer3
ENST00000692878.1:n.2734_2735del
ENST00000693049.1:c.*1553_*1554del ENSP00000510131.1:n.*1553_*1554del
XM_005252962.3:c.1704_1705del XP_005253019.1:p.Lys569ValfsTer3
XM_005252965.3:c.1704_1705del XP_005253022.1:p.Lys569ValfsTer3
XM_005252965.4:c.1704_1705del XP_005253022.1:p.Lys569ValfsTer3
XM_006718248.2:c.1569_1570del XP_006718311.1:p.Lys524ValfsTer3
XM_011520157.1:c.1725_1726del XP_011518459.1:p.Lys576ValfsTer3
XM_011520157.2:c.1725_1726del XP_011518459.1:p.Lys576ValfsTer3
XM_011520158.1:c.1725_1726del XP_011518460.1:p.Lys576ValfsTer3
XM_011520158.2:c.1725_1726del XP_011518460.1:p.Lys576ValfsTer3
XM_011520159.1:c.1725_1726del XP_011518461.1:p.Lys576ValfsTer3
XM_011520160.1:c.1725_1726del XP_011518462.1:p.Lys576ValfsTer3
XM_011520160.3:c.1725_1726del XP_011518462.1:p.Lys576ValfsTer3
XM_011520161.1:c.1725_1726del XP_011518463.1:p.Lys576ValfsTer3
XM_011520161.2:c.1725_1726del XP_011518463.1:p.Lys576ValfsTer3
XM_011520162.1:c.1725_1726del XP_011518464.1:p.Lys576ValfsTer3
XM_011520162.3:c.1725_1726del XP_011518464.1:p.Lys576ValfsTer3
XM_011520163.1:c.1725_1726del XP_011518465.1:p.Lys576ValfsTer3
XM_011520164.1:c.1725_1726del XP_011518466.1:p.Lys576ValfsTer3
XM_011520164.2:c.1725_1726del XP_011518466.1:p.Lys576ValfsTer3
XM_011520165.1:c.1725_1726del XP_011518467.1:p.Lys576ValfsTer3
XM_011520165.2:c.1725_1726del XP_011518467.1:p.Lys576ValfsTer3
XM_011520166.1:c.1725_1726del XP_011518468.1:p.Lys576ValfsTer3
XM_011520166.3:c.1725_1726del XP_011518468.1:p.Lys576ValfsTer3
XM_011520167.1:c.1725_1726del XP_011518469.1:p.Lys576ValfsTer3
XM_011520167.2:c.1725_1726del XP_011518469.1:p.Lys576ValfsTer3
XM_011520168.1:c.1725_1726del XP_011518470.1:p.Lys576ValfsTer3
XM_011520168.2:c.1725_1726del XP_011518470.1:p.Lys576ValfsTer3
XM_011520169.1:c.1725_1726del XP_011518471.1:p.Lys576ValfsTer3
XM_011520170.1:c.1725_1726del XP_011518472.1:p.Lys576ValfsTer3
XM_011520171.1:c.1722_1723del XP_011518473.1:p.Lys575ValfsTer3
XM_011520172.1:c.1722_1723del XP_011518474.1:p.Lys575ValfsTer3
XM_011520173.1:c.1704_1705del XP_011518475.1:p.Lys569ValfsTer3
XM_011520174.1:c.1704_1705del XP_011518476.1:p.Lys569ValfsTer3
XM_011520174.2:c.1704_1705del XP_011518476.1:p.Lys569ValfsTer3
XM_011520175.1:c.1701_1702del XP_011518477.1:p.Lys568ValfsTer3
XM_011520175.2:c.1701_1702del XP_011518477.1:p.Lys568ValfsTer3
XM_011520176.1:c.1725_1726del XP_011518478.1:p.Lys576ValfsTer3
XM_011520177.1:c.1584_1585del XP_011518479.1:p.Lys529ValfsTer3
XM_011520178.1:c.1569_1570del XP_011518480.1:p.Lys524ValfsTer3
XM_011520179.1:c.1563_1564del XP_011518481.1:p.Lys522ValfsTer3
XM_011520179.3:c.1563_1564del XP_011518481.1:p.Lys522ValfsTer3
XM_011520180.1:c.1473_1474del XP_011518482.1:p.Lys492ValfsTer3
XM_011520181.1:c.1452_1453del XP_011518483.1:p.Lys485ValfsTer3
XM_017017885.2:c.1725_1726del XP_016873374.1:p.Lys576ValfsTer3
XM_017017886.1:c.1725_1726del XP_016873375.1:p.Lys576ValfsTer3
XM_017017887.2:c.1725_1726del XP_016873376.1:p.Lys576ValfsTer3
XM_017017888.1:c.1722_1723del XP_016873377.1:p.Lys575ValfsTer3
XM_017017889.1:c.1722_1723del XP_016873378.1:p.Lys575ValfsTer3
XM_017017890.1:c.1719_1720del XP_016873379.1:p.Lys574ValfsTer3
XM_017017891.1:c.1701_1702del XP_016873380.1:p.Lys568ValfsTer3
XM_017017892.1:c.1701_1702del XP_016873381.1:p.Lys568ValfsTer3
XM_017017893.1:c.1725_1726del XP_016873382.1:p.Lys576ValfsTer3
XM_017017894.1:c.1584_1585del XP_016873383.1:p.Lys529ValfsTer3
XM_017017895.1:c.1581_1582del XP_016873384.1:p.Lys528ValfsTer3
XM_017017896.1:c.1581_1582del XP_016873385.1:p.Lys528ValfsTer3
XM_017017897.1:c.1569_1570del XP_016873386.1:p.Lys524ValfsTer3
XM_017017898.2:c.1569_1570del XP_016873387.1:p.Lys524ValfsTer3
XM_017017899.1:c.1569_1570del XP_016873388.1:p.Lys524ValfsTer3
XM_017017900.1:c.1569_1570del XP_016873389.1:p.Lys524ValfsTer3
XM_017017901.1:c.1569_1570del XP_016873390.1:p.Lys524ValfsTer3
XM_017017902.1:c.1560_1561del XP_016873391.1:p.Lys521ValfsTer3
XM_017017905.1:c.1473_1474del XP_016873394.1:p.Lys492ValfsTer3
XM_017017906.2:c.1560_1561del XP_016873395.1:p.Lys521ValfsTer3
XM_017017907.1:c.1452_1453del XP_016873396.1:p.Lys485ValfsTer3
XM_017017908.1:c.1320_1321del XP_016873397.1:p.Lys441ValfsTer3
XM_024448574.1:c.1704_1705del XP_024304342.1:p.Lys569ValfsTer3
XM_024448575.1:c.1704_1705del XP_024304343.1:p.Lys569ValfsTer3
XM_024448576.1:c.1704_1705del XP_024304344.1:p.Lys569ValfsTer3
XM_024448577.1:c.1560_1561del XP_024304345.1:p.Lys521ValfsTer3
XM_024448578.1:c.1560_1561del XP_024304346.1:p.Lys521ValfsTer3
XR_001747900.1:n.2230_2231del
XR_001747902.2:n.2099_2100del
XR_930874.1:n.1878_1879del