Canonical Allele Identifier: CA4727158

Gene: ANK1

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41661944A>G , CM000670.2:g.41661944A>G	GRCh38
NC_000008.10:g.41519462A>G , CM000670.1:g.41519462A>G	GRCh37
NC_000008.9:g.41638619A>G	NCBI36
NG_012820.1:g.239819T>C
NG_012820.2:g.239819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5602-3T>C	ENSP00000265709.8:n.5602-3T>C
ENST00000522543.6:c.304-3T>C	ENSP00000430368.1:n.304-3T>C
ENST00000705521.1:c.5698-3T>C	ENSP00000516136.1:n.5698-3T>C
ENST00000705522.1:c.5431-3T>C	ENSP00000516137.1:n.5431-3T>C
ENST00000265709.13:c.5602-3T>C	ENSP00000265709.8:n.5602-3T>C
ENST00000289734.13:c.5479-3T>C MANE Select	ENSP00000289734.8:n.5479-3T>C
ENST00000518715.2:n.488-3T>C
ENST00000645531.1:c.1493-3T>C
ENST00000265709.12:c.5602-3T>C	ENSP00000265709.8:n.5602-3T>C
ENST00000289734.11:c.5479-3T>C	ENSP00000289734.7:n.5479-3T>C
ENST00000314214.12:c.304-3T>C	ENSP00000319123.8:n.304-3T>C
ENST00000335651.6:c.304-380T>C	ENSP00000335031.6:n.304-380T>C
ENST00000347528.8:c.5479-3T>C	ENSP00000339620.4:n.5479-3T>C
ENST00000348036.8:c.303+1715T>C	ENSP00000297744.5:n.303+1715T>C
ENST00000518715.1:n.488-3T>C
ENST00000520299.5:c.2957-3T>C
ENST00000522231.5:c.304-3T>C	ENSP00000428750.1:n.304-3T>C
ENST00000522543.5:c.304-3T>C	ENSP00000430368.1:n.304-3T>C
ENST00000524227.5:n.2873-3T>C
NM_000037.3:c.5479-3T>C	NP_000028.3:n.5479-3T>C
NM_001142445.1:c.304-3T>C	NP_001135917.1:n.304-3T>C
NM_001142446.1:c.5602-3T>C	NP_001135918.1:n.5602-3T>C
NM_020475.2:c.5479-3T>C	NP_065208.2:n.5479-3T>C
NM_020476.2:c.5479-3T>C	NP_065209.2:n.5479-3T>C
NM_020477.2:c.4993-3T>C	NP_065210.2:n.4993-3T>C
NM_020478.4:c.304-3T>C	NP_065211.2:n.304-3T>C
NM_020480.4:c.303+1715T>C	NP_065213.2:n.303+1715T>C
XM_005273476.3:c.5602-3T>C	XP_005273533.1:n.5602-3T>C
XM_011544490.1:c.5743-3T>C	XP_011542792.1:n.5743-3T>C
XM_011544491.1:c.5743-3T>C	XP_011542793.1:n.5743-3T>C
XM_011544492.1:c.5644-3T>C	XP_011542794.1:n.5644-3T>C
XM_011544493.1:c.5743-3T>C	XP_011542795.1:n.5743-3T>C
XM_011544494.1:c.5698-3T>C	XP_011542796.1:n.5698-3T>C
XM_011544495.1:c.5698-3T>C	XP_011542797.1:n.5698-3T>C
XM_011544496.1:c.5743-3T>C	XP_011542798.1:n.5743-3T>C
XM_011544497.1:c.5578-3T>C	XP_011542799.1:n.5578-3T>C
XM_011544498.1:c.5560-3T>C	XP_011542800.1:n.5560-3T>C
XM_011544499.1:c.5742+1715T>C	XP_011542801.1:n.5742+1715T>C
XM_011544500.1:c.5578-3T>C	XP_011542802.1:n.5578-3T>C
XM_011544501.1:c.5578-3T>C	XP_011542803.1:n.5578-3T>C
XM_011544502.1:c.5578-3T>C	XP_011542804.1:n.5578-3T>C
XM_011544503.1:c.5212-3T>C	XP_011542805.1:n.5212-3T>C
XM_011544504.1:c.5092-3T>C	XP_011542806.1:n.5092-3T>C
XM_011544505.1:c.5092-3T>C	XP_011542807.1:n.5092-3T>C
XR_949389.1:n.5334-3T>C
XM_005273476.4:c.5602-3T>C	XP_005273533.1:n.5602-3T>C
XM_011544490.3:c.5743-3T>C	XP_011542792.1:n.5743-3T>C
XM_011544491.3:c.5743-3T>C	XP_011542793.1:n.5743-3T>C
XM_011544494.3:c.5698-3T>C	XP_011542796.1:n.5698-3T>C
XM_011544495.3:c.5698-3T>C	XP_011542797.1:n.5698-3T>C
XM_011544496.3:c.5743-3T>C	XP_011542798.1:n.5743-3T>C
XM_011544500.2:c.5578-3T>C	XP_011542802.1:n.5578-3T>C
XM_011544501.2:c.5578-3T>C	XP_011542803.1:n.5578-3T>C
XM_011544502.2:c.5578-3T>C	XP_011542804.1:n.5578-3T>C
XM_011544503.3:c.5212-3T>C	XP_011542805.1:n.5212-3T>C
XM_011544504.2:c.5092-3T>C	XP_011542806.1:n.5092-3T>C
XM_011544505.2:c.5092-3T>C	XP_011542807.1:n.5092-3T>C
XM_017013319.2:c.5719-3T>C	XP_016868808.1:n.5719-3T>C
XM_017013320.2:c.5743-380T>C	XP_016868809.1:n.5743-380T>C
XM_017013321.1:c.5656-3T>C	XP_016868810.1:n.5656-3T>C
XM_017013322.1:c.5647-3T>C	XP_016868811.1:n.5647-3T>C
XM_017013323.1:c.5644-3T>C	XP_016868812.1:n.5644-3T>C
XM_017013324.1:c.5602-3T>C	XP_016868813.1:n.5602-3T>C
XM_017013325.1:c.5560-3T>C	XP_016868814.1:n.5560-3T>C
XM_017013326.1:c.5515-3T>C	XP_016868815.1:n.5515-3T>C
XM_017013327.2:c.5257-3T>C	XP_016868816.1:n.5257-3T>C
XM_017013328.2:c.5212-3T>C	XP_016868817.1:n.5212-3T>C
XM_017013329.1:c.5116-3T>C	XP_016868818.1:n.5116-3T>C
XM_024447128.1:c.5548-3T>C	XP_024302896.1:n.5548-3T>C
NM_000037.4:c.5479-3T>C MANE Select	NP_000028.3:n.5479-3T>C
NM_001142445.2:c.304-3T>C	NP_001135917.1:n.304-3T>C
NM_001142446.2:c.5602-3T>C	NP_001135918.1:n.5602-3T>C
NM_020475.3:c.5479-3T>C	NP_065208.2:n.5479-3T>C
NM_020476.3:c.5479-3T>C	NP_065209.2:n.5479-3T>C
NM_020477.3:c.4993-3T>C	NP_065210.2:n.4993-3T>C
NM_020478.5:c.304-3T>C	NP_065211.2:n.304-3T>C
NM_020480.5:c.303+1715T>C	NP_065213.2:n.303+1715T>C