Canonical Allele Identifier: CA2079675582

Gene: ATP8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.25530100_25530101delinsTA , CM000675.2:g.25530100_25530101delinsTA	GRCh38
NC_000013.10:g.26104238_26104239delinsTA , CM000675.1:g.26104238_26104239delinsTA	GRCh37
NC_000013.9:g.25002238_25002239delinsTA	NCBI36
NG_042855.1:g.163090_163091delinsTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000281620.11:c.321+2_321+3delinsTA	ENSP00000281620.7:n.321+2_321+3delinsTA
ENST00000682472.1:c.321+2_321+3delinsTA	ENSP00000508103.1:n.321+2_321+3delinsTA
ENST00000682580.1:n.273+2_273+3delinsTA
ENST00000682942.1:n.762+2_762+3delinsTA
ENST00000682943.1:c.222-2172_222-2171delinsTA	ENSP00000507323.1:n.222-2172_222-2171delinsTA
ENST00000683303.1:c.321+2_321+3delinsTA	ENSP00000508339.1:n.321+2_321+3delinsTA
ENST00000683845.1:n.761+2_761+3delinsTA
ENST00000683945.1:n.233+2_233+3delinsTA
ENST00000683960.1:c.321+2_321+3delinsTA	ENSP00000506846.1:n.321+2_321+3delinsTA
ENST00000684025.1:n.386+2_386+3delinsTA
ENST00000684283.1:c.321+2_321+3delinsTA	ENSP00000507994.1:n.321+2_321+3delinsTA
ENST00000684424.1:c.201+2_201+3delinsTA	ENSP00000507489.1:n.201+2_201+3delinsTA
ENST00000381655.7:c.321+2_321+3delinsTA MANE Select	ENSP00000371070.2:n.321+2_321+3delinsTA
ENST00000255283.9:c.201+2_201+3delinsTA	ENSP00000255283.9:n.201+2_201+3delinsTA
ENST00000281620.10:c.-150+2_-150+3delinsTA	ENSP00000281620.6:n.-150+2_-150+3delinsTA
ENST00000381648.7:n.245+2_245+3delinsTA
ENST00000381655.6:c.321+2_321+3delinsTA	ENSP00000371070.2:n.321+2_321+3delinsTA
NM_001313741.1:c.201+2_201+3delinsTA	NP_001300670.1:n.201+2_201+3delinsTA
NM_016529.4:c.321+2_321+3delinsTA	NP_057613.4:n.321+2_321+3delinsTA
NM_016529.5:c.321+2_321+3delinsTA	NP_057613.4:n.321+2_321+3delinsTA
XM_005266419.1:c.201+2_201+3delinsTA	XP_005266476.1:n.201+2_201+3delinsTA
XM_011535103.1:c.321+2_321+3delinsTA	XP_011533405.1:n.321+2_321+3delinsTA
XM_011535104.1:c.201+2_201+3delinsTA	XP_011533406.1:n.201+2_201+3delinsTA
XM_011535106.1:c.321+2_321+3delinsTA	XP_011533408.1:n.321+2_321+3delinsTA
XM_011535107.1:c.321+2_321+3delinsTA	XP_011533409.1:n.321+2_321+3delinsTA
XM_011535108.1:c.-160+2_-160+3delinsTA	XP_011533410.1:n.-160+2_-160+3delinsTA
XM_011535109.1:c.-160+2_-160+3delinsTA	XP_011533411.1:n.-160+2_-160+3delinsTA
XM_011535110.1:c.-155+2_-155+3delinsTA	XP_011533412.1:n.-155+2_-155+3delinsTA
XM_011535111.1:c.-155+2_-155+3delinsTA	XP_011533413.1:n.-155+2_-155+3delinsTA
XM_011535112.1:c.-160+2_-160+3delinsTA	XP_011533414.1:n.-160+2_-160+3delinsTA
XM_011535113.1:c.321+2_321+3delinsTA	XP_011533415.1:n.321+2_321+3delinsTA
XM_011535114.1:c.321+2_321+3delinsTA	XP_011533416.1:n.321+2_321+3delinsTA
XM_011535104.3:c.201+2_201+3delinsTA	XP_011533406.1:n.201+2_201+3delinsTA
XM_011535107.3:c.321+2_321+3delinsTA	XP_011533409.1:n.321+2_321+3delinsTA
XM_011535109.3:c.-160+2_-160+3delinsTA	XP_011533411.1:n.-160+2_-160+3delinsTA
XM_011535113.2:c.321+2_321+3delinsTA	XP_011533415.1:n.321+2_321+3delinsTA
XM_017020625.2:c.321+2_321+3delinsTA	XP_016876114.1:n.321+2_321+3delinsTA
XM_017020626.1:c.321+2_321+3delinsTA	XP_016876115.1:n.321+2_321+3delinsTA
NM_016529.6:c.321+2_321+3delinsTA MANE Select	NP_057613.4:n.321+2_321+3delinsTA