Canonical Allele Identifier: CA4727459
Community Standard Title: NM_000037.4(ANK1):c.4694_4711del (p.Asp1565_Ser1570del)
Gene: ANK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41672744_41672761del , CM000670.2:g.41672744_41672761del GRCh38
NC_000008.10:g.41530262_41530279del , CM000670.1:g.41530262_41530279del GRCh37
NC_000008.9:g.41649419_41649436del NCBI36
NG_012820.1:g.229007_229024del
NG_012820.2:g.229007_229024del

Transcript Alleles

HGVS Amino-acid Change
NM_000037.4:c.4694_4711del MANE Select NP_000028.3:p.Asp1565_Ser1570del
ENST00000289734.13:c.4694_4711del MANE Select ENSP00000289734.8:p.Asp1565_Ser1570del
NM_000037.3:c.4694_4711del NP_000028.3:p.Asp1565_Ser1570del
NM_001142446.1:c.4817_4834del NP_001135918.1:p.Asp1606_Ser1611del
NM_001142446.2:c.4817_4834del NP_001135918.1:p.Asp1606_Ser1611del
NM_020475.2:c.4694_4711del NP_065208.2:p.Asp1565_Ser1570del
NM_020475.3:c.4694_4711del NP_065208.2:p.Asp1565_Ser1570del
NM_020476.2:c.4694_4711del NP_065209.2:p.Asp1565_Ser1570del
NM_020476.3:c.4694_4711del NP_065209.2:p.Asp1565_Ser1570del
NM_020477.2:c.4538-330_4538-313del NP_065210.2:n.4538-330_4538-313del
NM_020477.3:c.4538-330_4538-313del NP_065210.2:n.4538-330_4538-313del
ENST00000265709.12:c.4817_4834del ENSP00000265709.8:p.Asp1606_Ser1611del
ENST00000265709.13:c.4817_4834del ENSP00000265709.8:p.Asp1606_Ser1611del
ENST00000265709.14:c.4817_4834del ENSP00000265709.8:p.Asp1606_Ser1611del
ENST00000289734.11:c.4694_4711del ENSP00000289734.7:p.Asp1565_Ser1570del
ENST00000347528.8:c.4694_4711del ENSP00000339620.4:p.Asp1565_Ser1570del
ENST00000518061.1:c.493-227_493-210del
ENST00000520299.5:c.2502-330_2502-313del
ENST00000524227.5:n.2177_2194del
ENST00000645531.1:c.1038-330_1038-313del
ENST00000705521.1:c.4913_4930del ENSP00000516136.1:p.Asp1638_Ser1643del
ENST00000705522.1:c.4730_4747del ENSP00000516137.1:p.Asp1577_Ser1582del
XM_005273476.3:c.4817_4834del XP_005273533.1:p.Asp1606_Ser1611del
XM_005273476.4:c.4817_4834del XP_005273533.1:p.Asp1606_Ser1611del
XM_011544490.1:c.4913_4930del XP_011542792.1:p.Asp1638_Ser1643del
XM_011544490.3:c.4913_4930del XP_011542792.1:p.Asp1638_Ser1643del
XM_011544491.1:c.4913_4930del XP_011542793.1:p.Asp1638_Ser1643del
XM_011544491.3:c.4913_4930del XP_011542793.1:p.Asp1638_Ser1643del
XM_011544492.1:c.4814_4831del XP_011542794.1:p.Asp1605_Ser1610del
XM_011544493.1:c.4913_4930del XP_011542795.1:p.Asp1638_Ser1643del
XM_011544494.1:c.4913_4930del XP_011542796.1:p.Asp1638_Ser1643del
XM_011544494.3:c.4913_4930del XP_011542796.1:p.Asp1638_Ser1643del
XM_011544495.1:c.4913_4930del XP_011542797.1:p.Asp1638_Ser1643del
XM_011544495.3:c.4913_4930del XP_011542797.1:p.Asp1638_Ser1643del
XM_011544496.1:c.4913_4930del XP_011542798.1:p.Asp1638_Ser1643del
XM_011544496.3:c.4913_4930del XP_011542798.1:p.Asp1638_Ser1643del
XM_011544497.1:c.4793_4810del XP_011542799.1:p.Asp1598_Ser1603del
XM_011544498.1:c.4730_4747del XP_011542800.1:p.Asp1577_Ser1582del
XM_011544499.1:c.4913_4930del XP_011542801.1:p.Asp1638_Ser1643del
XM_011544500.1:c.4793_4810del XP_011542802.1:p.Asp1598_Ser1603del
XM_011544500.2:c.4793_4810del XP_011542802.1:p.Asp1598_Ser1603del
XM_011544501.1:c.4793_4810del XP_011542803.1:p.Asp1598_Ser1603del
XM_011544501.2:c.4793_4810del XP_011542803.1:p.Asp1598_Ser1603del
XM_011544502.1:c.4793_4810del XP_011542804.1:p.Asp1598_Ser1603del
XM_011544502.2:c.4793_4810del XP_011542804.1:p.Asp1598_Ser1603del
XM_011544503.1:c.4757-330_4757-313del XP_011542805.1:n.4757-330_4757-313del
XM_011544503.3:c.4757-330_4757-313del XP_011542805.1:n.4757-330_4757-313del
XM_011544504.1:c.4637-330_4637-313del XP_011542806.1:n.4637-330_4637-313del
XM_011544504.2:c.4637-330_4637-313del XP_011542806.1:n.4637-330_4637-313del
XM_011544505.1:c.4637-330_4637-313del XP_011542807.1:n.4637-330_4637-313del
XM_011544505.2:c.4637-330_4637-313del XP_011542807.1:n.4637-330_4637-313del
XM_011544506.1:c.4913_4920+10del
XM_017013319.2:c.4889_4906del XP_016868808.1:p.Asp1630_Ser1635del
XM_017013320.2:c.4913_4930del XP_016868809.1:p.Asp1638_Ser1643del
XM_017013321.1:c.4826_4843del XP_016868810.1:p.Asp1609_Ser1614del
XM_017013322.1:c.4817_4834del XP_016868811.1:p.Asp1606_Ser1611del
XM_017013323.1:c.4814_4831del XP_016868812.1:p.Asp1605_Ser1610del
XM_017013324.1:c.4817_4834del XP_016868813.1:p.Asp1606_Ser1611del
XM_017013325.1:c.4730_4747del XP_016868814.1:p.Asp1577_Ser1582del
XM_017013326.1:c.4730_4747del XP_016868815.1:p.Asp1577_Ser1582del
XM_017013327.2:c.4757-330_4757-313del XP_016868816.1:n.4757-330_4757-313del
XM_017013328.2:c.4757-330_4757-313del XP_016868817.1:n.4757-330_4757-313del
XM_017013329.1:c.4661-330_4661-313del XP_016868818.1:n.4661-330_4661-313del
XM_024447128.1:c.4718_4735del XP_024302896.1:p.Asp1573_Ser1578del
XR_949389.1:n.4776-227_4776-210del