Canonical Allele Identifier: CA4727062

Gene: ANK1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41661508C>T , CM000670.2:g.41661508C>T	GRCh38
NC_000008.10:g.41519026C>T , CM000670.1:g.41519026C>T	GRCh37
NC_000008.9:g.41638183C>T	NCBI36
NG_012820.1:g.240255G>A
NG_012820.2:g.240255G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000037.4:c.5601G>A MANE Select	NP_000028.3:p.Ala1867=
ENST00000289734.13:c.5601G>A MANE Select	ENSP00000289734.8:p.Ala1867=
NM_000037.3:c.5601G>A	NP_000028.3:p.Ala1867=
NM_001142445.1:c.444+293G>A	NP_001135917.1:n.444+293G>A
NM_001142445.2:c.444+293G>A	NP_001135917.1:n.444+293G>A
NM_001142446.1:c.5667+368G>A	NP_001135918.1:n.5667+368G>A
NM_001142446.2:c.5667+368G>A	NP_001135918.1:n.5667+368G>A
NM_020475.2:c.5544+368G>A	NP_065208.2:n.5544+368G>A
NM_020475.3:c.5544+368G>A	NP_065208.2:n.5544+368G>A
NM_020476.2:c.5619+293G>A	NP_065209.2:n.5619+293G>A
NM_020476.3:c.5619+293G>A	NP_065209.2:n.5619+293G>A
NM_020477.2:c.5133+293G>A	NP_065210.2:n.5133+293G>A
NM_020477.3:c.5133+293G>A	NP_065210.2:n.5133+293G>A
NM_020478.4:c.426G>A	NP_065211.2:p.Ala142=
NM_020478.5:c.426G>A	NP_065211.2:p.Ala142=
NM_020480.4:c.303+2151G>A	NP_065213.2:n.303+2151G>A
NM_020480.5:c.303+2151G>A	NP_065213.2:n.303+2151G>A
ENST00000265709.12:c.5667+368G>A	ENSP00000265709.8:n.5667+368G>A
ENST00000265709.13:c.5667+368G>A	ENSP00000265709.8:n.5667+368G>A
ENST00000265709.14:c.5667+368G>A	ENSP00000265709.8:n.5667+368G>A
ENST00000289734.11:c.5601G>A	ENSP00000289734.7:p.Ala1867=
ENST00000314214.12:c.426G>A	ENSP00000319123.8:p.Ala142=
ENST00000347528.8:c.5619+293G>A	ENSP00000339620.4:n.5619+293G>A
ENST00000348036.8:c.303+2151G>A	ENSP00000297744.5:n.303+2151G>A
ENST00000518715.2:n.610G>A
ENST00000520299.5:c.3079G>A
ENST00000522231.5:c.369+368G>A	ENSP00000428750.1:n.369+368G>A
ENST00000522543.5:c.444+293G>A	ENSP00000430368.1:n.444+293G>A
ENST00000522543.6:c.444+293G>A	ENSP00000430368.1:n.444+293G>A
ENST00000524227.5:n.3306G>A
ENST00000645531.1:c.1633+293G>A
ENST00000705521.1:c.5820G>A	ENSP00000516136.1:p.Ala1940=
ENST00000705522.1:c.5538+326G>A	ENSP00000516137.1:n.5538+326G>A
XM_005273476.3:c.5724G>A	XP_005273533.1:p.Ala1908=
XM_005273476.4:c.5724G>A	XP_005273533.1:p.Ala1908=
XM_011544490.1:c.5883+293G>A	XP_011542792.1:n.5883+293G>A
XM_011544490.3:c.5883+293G>A	XP_011542792.1:n.5883+293G>A
XM_011544491.1:c.5865G>A	XP_011542793.1:p.Ala1955=
XM_011544491.3:c.5865G>A	XP_011542793.1:p.Ala1955=
XM_011544492.1:c.5841G>A	XP_011542794.1:p.Ala1947=
XM_011544493.1:c.5850+326G>A	XP_011542795.1:n.5850+326G>A
XM_011544494.1:c.5838+293G>A	XP_011542796.1:n.5838+293G>A
XM_011544494.3:c.5838+293G>A	XP_011542796.1:n.5838+293G>A
XM_011544495.1:c.5820G>A	XP_011542797.1:p.Ala1940=
XM_011544495.3:c.5820G>A	XP_011542797.1:p.Ala1940=
XM_011544496.1:c.5808+368G>A	XP_011542798.1:n.5808+368G>A
XM_011544496.3:c.5808+368G>A	XP_011542798.1:n.5808+368G>A
XM_011544497.1:c.5775G>A	XP_011542799.1:p.Ala1925=
XM_011544498.1:c.5757G>A	XP_011542800.1:p.Ala1919=
XM_011544499.1:c.5742+2151G>A	XP_011542801.1:n.5742+2151G>A
XM_011544500.1:c.5718+293G>A	XP_011542802.1:n.5718+293G>A
XM_011544500.2:c.5718+293G>A	XP_011542802.1:n.5718+293G>A
XM_011544501.1:c.5700G>A	XP_011542803.1:p.Ala1900=
XM_011544501.2:c.5700G>A	XP_011542803.1:p.Ala1900=
XM_011544502.1:c.5643+368G>A	XP_011542804.1:n.5643+368G>A
XM_011544502.2:c.5643+368G>A	XP_011542804.1:n.5643+368G>A
XM_011544503.1:c.5334G>A	XP_011542805.1:p.Ala1778=
XM_011544503.3:c.5334G>A	XP_011542805.1:p.Ala1778=
XM_011544504.1:c.5232+293G>A	XP_011542806.1:n.5232+293G>A
XM_011544504.2:c.5232+293G>A	XP_011542806.1:n.5232+293G>A
XM_011544505.1:c.5214G>A	XP_011542807.1:p.Ala1738=
XM_011544505.2:c.5214G>A	XP_011542807.1:p.Ala1738=
XM_017013319.2:c.5859+293G>A	XP_016868808.1:n.5859+293G>A
XM_017013320.2:c.5799G>A	XP_016868809.1:p.Ala1933=
XM_017013321.1:c.5796+293G>A	XP_016868810.1:n.5796+293G>A
XM_017013322.1:c.5787+293G>A	XP_016868811.1:n.5787+293G>A
XM_017013323.1:c.5784+293G>A	XP_016868812.1:n.5784+293G>A
XM_017013324.1:c.5742+293G>A	XP_016868813.1:n.5742+293G>A
XM_017013325.1:c.5700+293G>A	XP_016868814.1:n.5700+293G>A
XM_017013326.1:c.5637G>A	XP_016868815.1:p.Ala1879=
XM_017013327.2:c.5397+293G>A	XP_016868816.1:n.5397+293G>A
XM_017013328.2:c.5352+293G>A	XP_016868817.1:n.5352+293G>A
XM_017013329.1:c.5238G>A	XP_016868818.1:p.Ala1746=
XM_024447128.1:c.5688+293G>A	XP_024302896.1:n.5688+293G>A
XR_949389.1:n.5474+293G>A