Canonical Allele Identifier: CA581928160
Gene: ANK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41661730T>A , CM000670.2:g.41661730T>A GRCh38
NC_000008.10:g.41519248T>A , CM000670.1:g.41519248T>A GRCh37
NC_000008.9:g.41638405T>A NCBI36
NG_012820.1:g.240033A>T
NG_012820.2:g.240033A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265709.14:c.5667+146A>T ENSP00000265709.8:n.5667+146A>T
ENST00000522543.6:c.444+71A>T ENSP00000430368.1:n.444+71A>T
ENST00000705521.1:c.5763+146A>T ENSP00000516136.1:n.5763+146A>T
ENST00000705522.1:c.5538+104A>T ENSP00000516137.1:n.5538+104A>T
ENST00000265709.13:c.5667+146A>T ENSP00000265709.8:n.5667+146A>T
ENST00000289734.13:c.5544+146A>T MANE Select ENSP00000289734.8:n.5544+146A>T
ENST00000518715.2:n.553+146A>T
ENST00000645531.1:c.1633+71A>T
ENST00000265709.12:c.5667+146A>T ENSP00000265709.8:n.5667+146A>T
ENST00000289734.11:c.5544+146A>T ENSP00000289734.7:n.5544+146A>T
ENST00000314214.12:c.369+146A>T ENSP00000319123.8:n.369+146A>T
ENST00000335651.6:c.304-166A>T ENSP00000335031.6:n.304-166A>T
ENST00000347528.8:c.5619+71A>T ENSP00000339620.4:n.5619+71A>T
ENST00000348036.8:c.303+1929A>T ENSP00000297744.5:n.303+1929A>T
ENST00000520299.5:c.3022+146A>T
ENST00000522231.5:c.369+146A>T ENSP00000428750.1:n.369+146A>T
ENST00000522543.5:c.444+71A>T ENSP00000430368.1:n.444+71A>T
ENST00000524227.5:n.3084A>T
NM_000037.3:c.5544+146A>T NP_000028.3:n.5544+146A>T
NM_001142445.1:c.444+71A>T NP_001135917.1:n.444+71A>T
NM_001142446.1:c.5667+146A>T NP_001135918.1:n.5667+146A>T
NM_020475.2:c.5544+146A>T NP_065208.2:n.5544+146A>T
NM_020476.2:c.5619+71A>T NP_065209.2:n.5619+71A>T
NM_020477.2:c.5133+71A>T NP_065210.2:n.5133+71A>T
NM_020478.4:c.369+146A>T NP_065211.2:n.369+146A>T
NM_020480.4:c.303+1929A>T NP_065213.2:n.303+1929A>T
XM_005273476.3:c.5667+146A>T XP_005273533.1:n.5667+146A>T
XM_011544490.1:c.5883+71A>T XP_011542792.1:n.5883+71A>T
XM_011544491.1:c.5808+146A>T XP_011542793.1:n.5808+146A>T
XM_011544492.1:c.5784+71A>T XP_011542794.1:n.5784+71A>T
XM_011544493.1:c.5850+104A>T XP_011542795.1:n.5850+104A>T
XM_011544494.1:c.5838+71A>T XP_011542796.1:n.5838+71A>T
XM_011544495.1:c.5763+146A>T XP_011542797.1:n.5763+146A>T
XM_011544496.1:c.5808+146A>T XP_011542798.1:n.5808+146A>T
XM_011544497.1:c.5718+71A>T XP_011542799.1:n.5718+71A>T
XM_011544498.1:c.5700+71A>T XP_011542800.1:n.5700+71A>T
XM_011544499.1:c.5742+1929A>T XP_011542801.1:n.5742+1929A>T
XM_011544500.1:c.5718+71A>T XP_011542802.1:n.5718+71A>T
XM_011544501.1:c.5643+146A>T XP_011542803.1:n.5643+146A>T
XM_011544502.1:c.5643+146A>T XP_011542804.1:n.5643+146A>T
XM_011544503.1:c.5277+146A>T XP_011542805.1:n.5277+146A>T
XM_011544504.1:c.5232+71A>T XP_011542806.1:n.5232+71A>T
XM_011544505.1:c.5157+146A>T XP_011542807.1:n.5157+146A>T
XR_949389.1:n.5474+71A>T
XM_005273476.4:c.5667+146A>T XP_005273533.1:n.5667+146A>T
XM_011544490.3:c.5883+71A>T XP_011542792.1:n.5883+71A>T
XM_011544491.3:c.5808+146A>T XP_011542793.1:n.5808+146A>T
XM_011544494.3:c.5838+71A>T XP_011542796.1:n.5838+71A>T
XM_011544495.3:c.5763+146A>T XP_011542797.1:n.5763+146A>T
XM_011544496.3:c.5808+146A>T XP_011542798.1:n.5808+146A>T
XM_011544500.2:c.5718+71A>T XP_011542802.1:n.5718+71A>T
XM_011544501.2:c.5643+146A>T XP_011542803.1:n.5643+146A>T
XM_011544502.2:c.5643+146A>T XP_011542804.1:n.5643+146A>T
XM_011544503.3:c.5277+146A>T XP_011542805.1:n.5277+146A>T
XM_011544504.2:c.5232+71A>T XP_011542806.1:n.5232+71A>T
XM_011544505.2:c.5157+146A>T XP_011542807.1:n.5157+146A>T
XM_017013319.2:c.5859+71A>T XP_016868808.1:n.5859+71A>T
XM_017013320.2:c.5743-166A>T XP_016868809.1:n.5743-166A>T
XM_017013321.1:c.5796+71A>T XP_016868810.1:n.5796+71A>T
XM_017013322.1:c.5787+71A>T XP_016868811.1:n.5787+71A>T
XM_017013323.1:c.5784+71A>T XP_016868812.1:n.5784+71A>T
XM_017013324.1:c.5742+71A>T XP_016868813.1:n.5742+71A>T
XM_017013325.1:c.5700+71A>T XP_016868814.1:n.5700+71A>T
XM_017013326.1:c.5580+146A>T XP_016868815.1:n.5580+146A>T
XM_017013327.2:c.5397+71A>T XP_016868816.1:n.5397+71A>T
XM_017013328.2:c.5352+71A>T XP_016868817.1:n.5352+71A>T
XM_017013329.1:c.5181+146A>T XP_016868818.1:n.5181+146A>T
XM_024447128.1:c.5688+71A>T XP_024302896.1:n.5688+71A>T
NM_000037.4:c.5544+146A>T MANE Select NP_000028.3:n.5544+146A>T
NM_001142445.2:c.444+71A>T NP_001135917.1:n.444+71A>T
NM_001142446.2:c.5667+146A>T NP_001135918.1:n.5667+146A>T
NM_020475.3:c.5544+146A>T NP_065208.2:n.5544+146A>T
NM_020476.3:c.5619+71A>T NP_065209.2:n.5619+71A>T
NM_020477.3:c.5133+71A>T NP_065210.2:n.5133+71A>T
NM_020478.5:c.369+146A>T NP_065211.2:n.369+146A>T
NM_020480.5:c.303+1929A>T NP_065213.2:n.303+1929A>T