Canonical Allele Identifier: CA4727236

Gene: ANK1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41664889G>C , CM000670.2:g.41664889G>C	GRCh38
NC_000008.10:g.41522407G>C , CM000670.1:g.41522407G>C	GRCh37
NC_000008.9:g.41641564G>C	NCBI36
NG_012820.1:g.236874C>G
NG_012820.2:g.236874C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5518-1147C>G	ENSP00000265709.8:n.5518-1147C>G
ENST00000522543.6:c.135C>G	ENSP00000430368.1:p.Asp45Glu
ENST00000705521.1:c.5614-1147C>G	ENSP00000516136.1:n.5614-1147C>G
ENST00000705522.1:c.5431-2948C>G	ENSP00000516137.1:n.5431-2948C>G
ENST00000265709.13:c.5518-1147C>G	ENSP00000265709.8:n.5518-1147C>G
ENST00000289734.13:c.5395-1147C>G MANE Select	ENSP00000289734.8:n.5395-1147C>G
ENST00000518715.2:n.319C>G
ENST00000645531.1:c.1409-1147C>G
ENST00000265709.12:c.5518-1147C>G	ENSP00000265709.8:n.5518-1147C>G
ENST00000289734.11:c.5395-1147C>G	ENSP00000289734.7:n.5395-1147C>G
ENST00000314214.12:c.135C>G	ENSP00000319123.8:p.Asp45Glu
ENST00000335651.6:c.135C>G	ENSP00000335031.6:p.Asp45Glu
ENST00000347528.8:c.5395-1147C>G	ENSP00000339620.4:n.5395-1147C>G
ENST00000348036.8:c.135C>G	ENSP00000297744.5:p.Asp45Glu
ENST00000518715.1:n.319C>G
ENST00000520299.5:c.2873-1147C>G
ENST00000522231.5:c.135C>G	ENSP00000428750.1:p.Asp45Glu
ENST00000522543.5:c.135C>G	ENSP00000430368.1:p.Asp45Glu
ENST00000524227.5:n.2789-1147C>G
NM_000037.3:c.5395-1147C>G	NP_000028.3:n.5395-1147C>G
NM_001142445.1:c.135C>G	NP_001135917.1:p.Asp45Glu
NM_001142446.1:c.5518-1147C>G	NP_001135918.1:n.5518-1147C>G
NM_020475.2:c.5395-1147C>G	NP_065208.2:n.5395-1147C>G
NM_020476.2:c.5395-1147C>G	NP_065209.2:n.5395-1147C>G
NM_020477.2:c.4909-1147C>G	NP_065210.2:n.4909-1147C>G
NM_020478.4:c.135C>G	NP_065211.2:p.Asp45Glu
NM_020480.4:c.135C>G	NP_065213.2:p.Asp45Glu
XM_005273476.3:c.5518-1147C>G	XP_005273533.1:n.5518-1147C>G
XM_011544490.1:c.5659-1147C>G	XP_011542792.1:n.5659-1147C>G
XM_011544491.1:c.5659-1147C>G	XP_011542793.1:n.5659-1147C>G
XM_011544492.1:c.5560-1147C>G	XP_011542794.1:n.5560-1147C>G
XM_011544493.1:c.5659-1147C>G	XP_011542795.1:n.5659-1147C>G
XM_011544494.1:c.5614-1147C>G	XP_011542796.1:n.5614-1147C>G
XM_011544495.1:c.5614-1147C>G	XP_011542797.1:n.5614-1147C>G
XM_011544496.1:c.5659-1147C>G	XP_011542798.1:n.5659-1147C>G
XM_011544497.1:c.5494-1147C>G	XP_011542799.1:n.5494-1147C>G
XM_011544498.1:c.5476-1147C>G	XP_011542800.1:n.5476-1147C>G
XM_011544499.1:c.5659-1147C>G	XP_011542801.1:n.5659-1147C>G
XM_011544500.1:c.5494-1147C>G	XP_011542802.1:n.5494-1147C>G
XM_011544501.1:c.5494-1147C>G	XP_011542803.1:n.5494-1147C>G
XM_011544502.1:c.5494-1147C>G	XP_011542804.1:n.5494-1147C>G
XM_011544503.1:c.5128-1147C>G	XP_011542805.1:n.5128-1147C>G
XM_011544504.1:c.5008-1147C>G	XP_011542806.1:n.5008-1147C>G
XM_011544505.1:c.5008-1147C>G	XP_011542807.1:n.5008-1147C>G
XR_949389.1:n.5250-1147C>G
XM_005273476.4:c.5518-1147C>G	XP_005273533.1:n.5518-1147C>G
XM_011544490.3:c.5659-1147C>G	XP_011542792.1:n.5659-1147C>G
XM_011544491.3:c.5659-1147C>G	XP_011542793.1:n.5659-1147C>G
XM_011544494.3:c.5614-1147C>G	XP_011542796.1:n.5614-1147C>G
XM_011544495.3:c.5614-1147C>G	XP_011542797.1:n.5614-1147C>G
XM_011544496.3:c.5659-1147C>G	XP_011542798.1:n.5659-1147C>G
XM_011544500.2:c.5494-1147C>G	XP_011542802.1:n.5494-1147C>G
XM_011544501.2:c.5494-1147C>G	XP_011542803.1:n.5494-1147C>G
XM_011544502.2:c.5494-1147C>G	XP_011542804.1:n.5494-1147C>G
XM_011544503.3:c.5128-1147C>G	XP_011542805.1:n.5128-1147C>G
XM_011544504.2:c.5008-1147C>G	XP_011542806.1:n.5008-1147C>G
XM_011544505.2:c.5008-1147C>G	XP_011542807.1:n.5008-1147C>G
XM_017013319.2:c.5635-1147C>G	XP_016868808.1:n.5635-1147C>G
XM_017013320.2:c.5659-1147C>G	XP_016868809.1:n.5659-1147C>G
XM_017013321.1:c.5572-1147C>G	XP_016868810.1:n.5572-1147C>G
XM_017013322.1:c.5563-1147C>G	XP_016868811.1:n.5563-1147C>G
XM_017013323.1:c.5560-1147C>G	XP_016868812.1:n.5560-1147C>G
XM_017013324.1:c.5518-1147C>G	XP_016868813.1:n.5518-1147C>G
XM_017013325.1:c.5476-1147C>G	XP_016868814.1:n.5476-1147C>G
XM_017013326.1:c.5431-1147C>G	XP_016868815.1:n.5431-1147C>G
XM_017013327.2:c.5173-1147C>G	XP_016868816.1:n.5173-1147C>G
XM_017013328.2:c.5128-1147C>G	XP_016868817.1:n.5128-1147C>G
XM_017013329.1:c.5032-1147C>G	XP_016868818.1:n.5032-1147C>G
XM_024447128.1:c.5464-1147C>G	XP_024302896.1:n.5464-1147C>G
NM_000037.4:c.5395-1147C>G MANE Select	NP_000028.3:n.5395-1147C>G
NM_001142445.2:c.135C>G	NP_001135917.1:p.Asp45Glu
NM_001142446.2:c.5518-1147C>G	NP_001135918.1:n.5518-1147C>G
NM_020475.3:c.5395-1147C>G	NP_065208.2:n.5395-1147C>G
NM_020476.3:c.5395-1147C>G	NP_065209.2:n.5395-1147C>G
NM_020477.3:c.4909-1147C>G	NP_065210.2:n.4909-1147C>G
NM_020478.5:c.135C>G	NP_065211.2:p.Asp45Glu
NM_020480.5:c.135C>G	NP_065213.2:p.Asp45Glu