Canonical Allele Identifier: CA2687065196

Gene: ANK1

Linked Data

• gnomAD v4: 8-41668568-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41668568G>A , CM000670.2:g.41668568G>A	GRCh38
NC_000008.10:g.41526086G>A , CM000670.1:g.41526086G>A	GRCh37
NC_000008.9:g.41645243G>A	NCBI36
NG_012820.1:g.233195C>T
NG_012820.2:g.233195C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.5220-4C>T	ENSP00000265709.8:n.5220-4C>T
ENST00000705521.1:c.5316-4C>T	ENSP00000516136.1:n.5316-4C>T
ENST00000705522.1:c.5133-4C>T	ENSP00000516137.1:n.5133-4C>T
ENST00000265709.13:c.5220-4C>T	ENSP00000265709.8:n.5220-4C>T
ENST00000289734.13:c.5097-4C>T MANE Select	ENSP00000289734.8:n.5097-4C>T
ENST00000645531.1:c.1111-4C>T
ENST00000265709.12:c.5220-4C>T	ENSP00000265709.8:n.5220-4C>T
ENST00000289734.11:c.5097-4C>T	ENSP00000289734.7:n.5097-4C>T
ENST00000347528.8:c.5097-4C>T	ENSP00000339620.4:n.5097-4C>T
ENST00000518061.1:c.669-4C>T
ENST00000520299.5:c.2575-4C>T
ENST00000524227.5:n.2491-4C>T
NM_000037.3:c.5097-4C>T	NP_000028.3:n.5097-4C>T
NM_001142446.1:c.5220-4C>T	NP_001135918.1:n.5220-4C>T
NM_020475.2:c.5097-4C>T	NP_065208.2:n.5097-4C>T
NM_020476.2:c.5097-4C>T	NP_065209.2:n.5097-4C>T
NM_020477.2:c.4611-4C>T	NP_065210.2:n.4611-4C>T
XM_005273476.3:c.5220-4C>T	XP_005273533.1:n.5220-4C>T
XM_011544490.1:c.5361-4C>T	XP_011542792.1:n.5361-4C>T
XM_011544491.1:c.5361-4C>T	XP_011542793.1:n.5361-4C>T
XM_011544492.1:c.5262-4C>T	XP_011542794.1:n.5262-4C>T
XM_011544493.1:c.5361-4C>T	XP_011542795.1:n.5361-4C>T
XM_011544494.1:c.5316-4C>T	XP_011542796.1:n.5316-4C>T
XM_011544495.1:c.5316-4C>T	XP_011542797.1:n.5316-4C>T
XM_011544496.1:c.5361-4C>T	XP_011542798.1:n.5361-4C>T
XM_011544497.1:c.5196-4C>T	XP_011542799.1:n.5196-4C>T
XM_011544498.1:c.5178-4C>T	XP_011542800.1:n.5178-4C>T
XM_011544499.1:c.5361-4C>T	XP_011542801.1:n.5361-4C>T
XM_011544500.1:c.5196-4C>T	XP_011542802.1:n.5196-4C>T
XM_011544501.1:c.5196-4C>T	XP_011542803.1:n.5196-4C>T
XM_011544502.1:c.5196-4C>T	XP_011542804.1:n.5196-4C>T
XM_011544503.1:c.4830-4C>T	XP_011542805.1:n.4830-4C>T
XM_011544504.1:c.4710-4C>T	XP_011542806.1:n.4710-4C>T
XM_011544505.1:c.4710-4C>T	XP_011542807.1:n.4710-4C>T
XM_011544506.1:c.4921-4C>T	XP_011542808.1:n.4921-4C>T
XR_949389.1:n.4952-4C>T
XM_005273476.4:c.5220-4C>T	XP_005273533.1:n.5220-4C>T
XM_011544490.3:c.5361-4C>T	XP_011542792.1:n.5361-4C>T
XM_011544491.3:c.5361-4C>T	XP_011542793.1:n.5361-4C>T
XM_011544494.3:c.5316-4C>T	XP_011542796.1:n.5316-4C>T
XM_011544495.3:c.5316-4C>T	XP_011542797.1:n.5316-4C>T
XM_011544496.3:c.5361-4C>T	XP_011542798.1:n.5361-4C>T
XM_011544500.2:c.5196-4C>T	XP_011542802.1:n.5196-4C>T
XM_011544501.2:c.5196-4C>T	XP_011542803.1:n.5196-4C>T
XM_011544502.2:c.5196-4C>T	XP_011542804.1:n.5196-4C>T
XM_011544503.3:c.4830-4C>T	XP_011542805.1:n.4830-4C>T
XM_011544504.2:c.4710-4C>T	XP_011542806.1:n.4710-4C>T
XM_011544505.2:c.4710-4C>T	XP_011542807.1:n.4710-4C>T
XM_017013319.2:c.5337-4C>T	XP_016868808.1:n.5337-4C>T
XM_017013320.2:c.5361-4C>T	XP_016868809.1:n.5361-4C>T
XM_017013321.1:c.5274-4C>T	XP_016868810.1:n.5274-4C>T
XM_017013322.1:c.5265-4C>T	XP_016868811.1:n.5265-4C>T
XM_017013323.1:c.5262-4C>T	XP_016868812.1:n.5262-4C>T
XM_017013324.1:c.5220-4C>T	XP_016868813.1:n.5220-4C>T
XM_017013325.1:c.5178-4C>T	XP_016868814.1:n.5178-4C>T
XM_017013326.1:c.5133-4C>T	XP_016868815.1:n.5133-4C>T
XM_017013327.2:c.4875-4C>T	XP_016868816.1:n.4875-4C>T
XM_017013328.2:c.4830-4C>T	XP_016868817.1:n.4830-4C>T
XM_017013329.1:c.4734-4C>T	XP_016868818.1:n.4734-4C>T
XM_024447128.1:c.5166-4C>T	XP_024302896.1:n.5166-4C>T
NM_000037.4:c.5097-4C>T MANE Select	NP_000028.3:n.5097-4C>T
NM_001142446.2:c.5220-4C>T	NP_001135918.1:n.5220-4C>T
NM_020475.3:c.5097-4C>T	NP_065208.2:n.5097-4C>T
NM_020476.3:c.5097-4C>T	NP_065209.2:n.5097-4C>T
NM_020477.3:c.4611-4C>T	NP_065210.2:n.4611-4C>T