Canonical Allele Identifier: CA2580078291

Gene: ANK1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41693917_41693927del , CM000670.2:g.41693917_41693927del	GRCh38
NC_000008.10:g.41551435_41551445del , CM000670.1:g.41551435_41551445del	GRCh37
NC_000008.9:g.41670592_41670602del	NCBI36
NG_012820.1:g.207837_207847del
NG_012820.2:g.207837_207847del

Transcript Alleles

HGVS	Amino-acid Change
NM_000037.4:c.3504_3514del MANE Select	NP_000028.3:p.Ser1169AlafsTer?
ENST00000289734.13:c.3504_3514del MANE Select	ENSP00000289734.8:p.Ser1169AlafsTer?
NM_000037.3:c.3504_3514del	NP_000028.3:p.Ser1169AlafsTer?
NM_001142446.1:c.3627_3637del	NP_001135918.1:p.Ser1210AlafsTer?
NM_001142446.2:c.3627_3637del	NP_001135918.1:p.Ser1210AlafsTer?
NM_020475.2:c.3504_3514del	NP_065208.2:p.Ser1169AlafsTer?
NM_020475.3:c.3504_3514del	NP_065208.2:p.Ser1169AlafsTer?
NM_020476.2:c.3504_3514del	NP_065209.2:p.Ser1169AlafsTer?
NM_020476.3:c.3504_3514del	NP_065209.2:p.Ser1169AlafsTer?
NM_020477.2:c.3504_3514del	NP_065210.2:p.Ser1169AlafsTer?
NM_020477.3:c.3504_3514del	NP_065210.2:p.Ser1169AlafsTer?
ENST00000265709.12:c.3627_3637del	ENSP00000265709.8:p.Ser1210AlafsTer?
ENST00000265709.13:c.3627_3637del	ENSP00000265709.8:p.Ser1210AlafsTer?
ENST00000265709.14:c.3627_3637del	ENSP00000265709.8:p.Ser1210AlafsTer?
ENST00000289734.11:c.3504_3514del	ENSP00000289734.7:p.Ser1169AlafsTer?
ENST00000347528.8:c.3504_3514del	ENSP00000339620.4:p.Ser1169AlafsTer?
ENST00000520299.5:c.1468_1478del
ENST00000524069.1:n.373_383del
ENST00000524227.5:n.987_997del
ENST00000645531.1:c.4_14del
ENST00000705521.1:c.3723_3733del	ENSP00000516136.1:p.Ser1242AlafsTer?
ENST00000705522.1:c.3540_3550del	ENSP00000516137.1:p.Ser1181AlafsTer?
XM_005273476.3:c.3627_3637del	XP_005273533.1:p.Ser1210AlafsTer?
XM_005273476.4:c.3627_3637del	XP_005273533.1:p.Ser1210AlafsTer?
XM_011544490.1:c.3723_3733del	XP_011542792.1:p.Ser1242AlafsTer?
XM_011544490.3:c.3723_3733del	XP_011542792.1:p.Ser1242AlafsTer?
XM_011544491.1:c.3723_3733del	XP_011542793.1:p.Ser1242AlafsTer?
XM_011544491.3:c.3723_3733del	XP_011542793.1:p.Ser1242AlafsTer?
XM_011544492.1:c.3624_3634del	XP_011542794.1:p.Ser1209AlafsTer?
XM_011544493.1:c.3723_3733del	XP_011542795.1:p.Ser1242AlafsTer?
XM_011544494.1:c.3723_3733del	XP_011542796.1:p.Ser1242AlafsTer?
XM_011544494.3:c.3723_3733del	XP_011542796.1:p.Ser1242AlafsTer?
XM_011544495.1:c.3723_3733del	XP_011542797.1:p.Ser1242AlafsTer?
XM_011544495.3:c.3723_3733del	XP_011542797.1:p.Ser1242AlafsTer?
XM_011544496.1:c.3723_3733del	XP_011542798.1:p.Ser1242AlafsTer?
XM_011544496.3:c.3723_3733del	XP_011542798.1:p.Ser1242AlafsTer?
XM_011544497.1:c.3603_3613del	XP_011542799.1:p.Ser1202AlafsTer?
XM_011544498.1:c.3540_3550del	XP_011542800.1:p.Ser1181AlafsTer?
XM_011544499.1:c.3723_3733del	XP_011542801.1:p.Ser1242AlafsTer?
XM_011544500.1:c.3603_3613del	XP_011542802.1:p.Ser1202AlafsTer?
XM_011544500.2:c.3603_3613del	XP_011542802.1:p.Ser1202AlafsTer?
XM_011544501.1:c.3603_3613del	XP_011542803.1:p.Ser1202AlafsTer?
XM_011544501.2:c.3603_3613del	XP_011542803.1:p.Ser1202AlafsTer?
XM_011544502.1:c.3603_3613del	XP_011542804.1:p.Ser1202AlafsTer?
XM_011544502.2:c.3603_3613del	XP_011542804.1:p.Ser1202AlafsTer?
XM_011544503.1:c.3723_3733del	XP_011542805.1:p.Ser1242AlafsTer?
XM_011544503.3:c.3723_3733del	XP_011542805.1:p.Ser1242AlafsTer?
XM_011544504.1:c.3603_3613del	XP_011542806.1:p.Ser1202AlafsTer?
XM_011544504.2:c.3603_3613del	XP_011542806.1:p.Ser1202AlafsTer?
XM_011544505.1:c.3603_3613del	XP_011542807.1:p.Ser1202AlafsTer?
XM_011544505.2:c.3603_3613del	XP_011542807.1:p.Ser1202AlafsTer?
XM_011544506.1:c.3723_3733del	XP_011542808.1:p.Ser1242AlafsTer?
XM_017013319.2:c.3699_3709del	XP_016868808.1:p.Ser1234AlafsTer?
XM_017013320.2:c.3723_3733del	XP_016868809.1:p.Ser1242AlafsTer?
XM_017013321.1:c.3636_3646del	XP_016868810.1:p.Ser1213AlafsTer?
XM_017013322.1:c.3627_3637del	XP_016868811.1:p.Ser1210AlafsTer?
XM_017013323.1:c.3624_3634del	XP_016868812.1:p.Ser1209AlafsTer?
XM_017013324.1:c.3627_3637del	XP_016868813.1:p.Ser1210AlafsTer?
XM_017013325.1:c.3540_3550del	XP_016868814.1:p.Ser1181AlafsTer?
XM_017013326.1:c.3540_3550del	XP_016868815.1:p.Ser1181AlafsTer?
XM_017013327.2:c.3723_3733del	XP_016868816.1:p.Ser1242AlafsTer?
XM_017013328.2:c.3723_3733del	XP_016868817.1:p.Ser1242AlafsTer?
XM_017013329.1:c.3627_3637del	XP_016868818.1:p.Ser1210AlafsTer?
XM_024447128.1:c.3528_3538del	XP_024302896.1:p.Ser1177AlafsTer?
XR_949389.1:n.3742_3752del