Canonical Allele Identifier: CA4727057

Gene: ANK1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41661495G>A , CM000670.2:g.41661495G>A	GRCh38
NC_000008.10:g.41519013G>A , CM000670.1:g.41519013G>A	GRCh37
NC_000008.9:g.41638170G>A	NCBI36
NG_012820.1:g.240268C>T
NG_012820.2:g.240268C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5667+381C>T	ENSP00000265709.8:n.5667+381C>T
ENST00000522543.6:c.444+306C>T	ENSP00000430368.1:n.444+306C>T
ENST00000705521.1:c.5833C>T	ENSP00000516136.1:p.Arg1945Trp
ENST00000705522.1:c.5538+339C>T	ENSP00000516137.1:n.5538+339C>T
ENST00000265709.13:c.5667+381C>T	ENSP00000265709.8:n.5667+381C>T
ENST00000289734.13:c.5614C>T MANE Select	ENSP00000289734.8:p.Arg1872Trp
ENST00000518715.2:n.623C>T
ENST00000645531.1:c.1633+306C>T
ENST00000265709.12:c.5667+381C>T	ENSP00000265709.8:n.5667+381C>T
ENST00000289734.11:c.5614C>T	ENSP00000289734.7:p.Arg1872Trp
ENST00000314214.12:c.439C>T	ENSP00000319123.8:p.Arg147Trp
ENST00000347528.8:c.5619+306C>T	ENSP00000339620.4:n.5619+306C>T
ENST00000348036.8:c.303+2164C>T	ENSP00000297744.5:n.303+2164C>T
ENST00000520299.5:c.3092C>T
ENST00000522231.5:c.369+381C>T	ENSP00000428750.1:n.369+381C>T
ENST00000522543.5:c.444+306C>T	ENSP00000430368.1:n.444+306C>T
ENST00000524227.5:n.3319C>T
NM_000037.3:c.5614C>T	NP_000028.3:p.Arg1872Trp
NM_001142445.1:c.444+306C>T	NP_001135917.1:n.444+306C>T
NM_001142446.1:c.5667+381C>T	NP_001135918.1:n.5667+381C>T
NM_020475.2:c.5544+381C>T	NP_065208.2:n.5544+381C>T
NM_020476.2:c.5619+306C>T	NP_065209.2:n.5619+306C>T
NM_020477.2:c.5133+306C>T	NP_065210.2:n.5133+306C>T
NM_020478.4:c.439C>T	NP_065211.2:p.Arg147Trp
NM_020480.4:c.303+2164C>T	NP_065213.2:n.303+2164C>T
XM_005273476.3:c.5737C>T	XP_005273533.1:p.Arg1913Trp
XM_011544490.1:c.5883+306C>T	XP_011542792.1:n.5883+306C>T
XM_011544491.1:c.5878C>T	XP_011542793.1:p.Arg1960Trp
XM_011544492.1:c.5854C>T	XP_011542794.1:p.Arg1952Trp
XM_011544493.1:c.5850+339C>T	XP_011542795.1:n.5850+339C>T
XM_011544494.1:c.5838+306C>T	XP_011542796.1:n.5838+306C>T
XM_011544495.1:c.5833C>T	XP_011542797.1:p.Arg1945Trp
XM_011544496.1:c.5808+381C>T	XP_011542798.1:n.5808+381C>T
XM_011544497.1:c.5788C>T	XP_011542799.1:p.Arg1930Trp
XM_011544498.1:c.5770C>T	XP_011542800.1:p.Arg1924Trp
XM_011544499.1:c.5742+2164C>T	XP_011542801.1:n.5742+2164C>T
XM_011544500.1:c.5718+306C>T	XP_011542802.1:n.5718+306C>T
XM_011544501.1:c.5713C>T	XP_011542803.1:p.Arg1905Trp
XM_011544502.1:c.5643+381C>T	XP_011542804.1:n.5643+381C>T
XM_011544503.1:c.5347C>T	XP_011542805.1:p.Arg1783Trp
XM_011544504.1:c.5232+306C>T	XP_011542806.1:n.5232+306C>T
XM_011544505.1:c.5227C>T	XP_011542807.1:p.Arg1743Trp
XR_949389.1:n.5474+306C>T
XM_005273476.4:c.5737C>T	XP_005273533.1:p.Arg1913Trp
XM_011544490.3:c.5883+306C>T	XP_011542792.1:n.5883+306C>T
XM_011544491.3:c.5878C>T	XP_011542793.1:p.Arg1960Trp
XM_011544494.3:c.5838+306C>T	XP_011542796.1:n.5838+306C>T
XM_011544495.3:c.5833C>T	XP_011542797.1:p.Arg1945Trp
XM_011544496.3:c.5808+381C>T	XP_011542798.1:n.5808+381C>T
XM_011544500.2:c.5718+306C>T	XP_011542802.1:n.5718+306C>T
XM_011544501.2:c.5713C>T	XP_011542803.1:p.Arg1905Trp
XM_011544502.2:c.5643+381C>T	XP_011542804.1:n.5643+381C>T
XM_011544503.3:c.5347C>T	XP_011542805.1:p.Arg1783Trp
XM_011544504.2:c.5232+306C>T	XP_011542806.1:n.5232+306C>T
XM_011544505.2:c.5227C>T	XP_011542807.1:p.Arg1743Trp
XM_017013319.2:c.5859+306C>T	XP_016868808.1:n.5859+306C>T
XM_017013320.2:c.5812C>T	XP_016868809.1:p.Arg1938Trp
XM_017013321.1:c.5796+306C>T	XP_016868810.1:n.5796+306C>T
XM_017013322.1:c.5787+306C>T	XP_016868811.1:n.5787+306C>T
XM_017013323.1:c.5784+306C>T	XP_016868812.1:n.5784+306C>T
XM_017013324.1:c.5742+306C>T	XP_016868813.1:n.5742+306C>T
XM_017013325.1:c.5700+306C>T	XP_016868814.1:n.5700+306C>T
XM_017013326.1:c.5650C>T	XP_016868815.1:p.Arg1884Trp
XM_017013327.2:c.5397+306C>T	XP_016868816.1:n.5397+306C>T
XM_017013328.2:c.5352+306C>T	XP_016868817.1:n.5352+306C>T
XM_017013329.1:c.5251C>T	XP_016868818.1:p.Arg1751Trp
XM_024447128.1:c.5688+306C>T	XP_024302896.1:n.5688+306C>T
NM_000037.4:c.5614C>T MANE Select	NP_000028.3:p.Arg1872Trp
NM_001142445.2:c.444+306C>T	NP_001135917.1:n.444+306C>T
NM_001142446.2:c.5667+381C>T	NP_001135918.1:n.5667+381C>T
NM_020475.3:c.5544+381C>T	NP_065208.2:n.5544+381C>T
NM_020476.3:c.5619+306C>T	NP_065209.2:n.5619+306C>T
NM_020477.3:c.5133+306C>T	NP_065210.2:n.5133+306C>T
NM_020478.5:c.439C>T	NP_065211.2:p.Arg147Trp
NM_020480.5:c.303+2164C>T	NP_065213.2:n.303+2164C>T