Canonical Allele Identifier: CA2079675603

Gene: ATP8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.25530126_25530127delinsAT , CM000675.2:g.25530126_25530127delinsAT	GRCh38
NC_000013.10:g.26104264_26104265delinsAT , CM000675.1:g.26104264_26104265delinsAT	GRCh37
NC_000013.9:g.25002264_25002265delinsAT	NCBI36
NG_042855.1:g.163116_163117delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000281620.11:c.321+28_321+29delinsAT	ENSP00000281620.7:n.321+28_321+29delinsAT...
ENST00000682472.1:c.321+28_321+29delinsAT	ENSP00000508103.1:n.321+28_321+29delinsAT...
ENST00000682580.1:n.273+28_273+29delinsAT
ENST00000682942.1:n.762+28_762+29delinsAT
ENST00000682943.1:c.222-2146_222-2145delinsAT	ENSP00000507323.1:n.222-2146_222-2145deli...
ENST00000683303.1:c.321+28_321+29delinsAT	ENSP00000508339.1:n.321+28_321+29delinsAT...
ENST00000683845.1:n.761+28_761+29delinsAT
ENST00000683945.1:n.233+28_233+29delinsAT
ENST00000683960.1:c.321+28_321+29delinsAT	ENSP00000506846.1:n.321+28_321+29delinsAT...
ENST00000684025.1:n.386+28_386+29delinsAT
ENST00000684283.1:c.321+28_321+29delinsAT	ENSP00000507994.1:n.321+28_321+29delinsAT...
ENST00000684424.1:c.201+28_201+29delinsAT	ENSP00000507489.1:n.201+28_201+29delinsAT...
ENST00000381655.7:c.321+28_321+29delinsAT MANE Select	ENSP00000371070.2:n.321+28_321+29delinsAT...
ENST00000255283.9:c.201+28_201+29delinsAT	ENSP00000255283.9:n.201+28_201+29delinsAT...
ENST00000281620.10:c.-150+28_-150+29delinsAT	ENSP00000281620.6:n.-150+28_-150+29delins...
ENST00000381648.7:n.245+28_245+29delinsAT
ENST00000381655.6:c.321+28_321+29delinsAT	ENSP00000371070.2:n.321+28_321+29delinsAT...
NM_001313741.1:c.201+28_201+29delinsAT	NP_001300670.1:n.201+28_201+29delinsAT
NM_016529.4:c.321+28_321+29delinsAT	NP_057613.4:n.321+28_321+29delinsAT
NM_016529.5:c.321+28_321+29delinsAT	NP_057613.4:n.321+28_321+29delinsAT
XM_005266419.1:c.201+28_201+29delinsAT	XP_005266476.1:n.201+28_201+29delinsAT
XM_011535103.1:c.321+28_321+29delinsAT	XP_011533405.1:n.321+28_321+29delinsAT
XM_011535104.1:c.201+28_201+29delinsAT	XP_011533406.1:n.201+28_201+29delinsAT
XM_011535106.1:c.321+28_321+29delinsAT	XP_011533408.1:n.321+28_321+29delinsAT
XM_011535107.1:c.321+28_321+29delinsAT	XP_011533409.1:n.321+28_321+29delinsAT
XM_011535108.1:c.-160+28_-160+29delinsAT	XP_011533410.1:n.-160+28_-160+29delinsAT
XM_011535109.1:c.-160+28_-160+29delinsAT	XP_011533411.1:n.-160+28_-160+29delinsAT
XM_011535110.1:c.-155+28_-155+29delinsAT	XP_011533412.1:n.-155+28_-155+29delinsAT
XM_011535111.1:c.-155+28_-155+29delinsAT	XP_011533413.1:n.-155+28_-155+29delinsAT
XM_011535112.1:c.-160+28_-160+29delinsAT	XP_011533414.1:n.-160+28_-160+29delinsAT
XM_011535113.1:c.321+28_321+29delinsAT	XP_011533415.1:n.321+28_321+29delinsAT
XM_011535114.1:c.321+28_321+29delinsAT	XP_011533416.1:n.321+28_321+29delinsAT
XM_011535104.3:c.201+28_201+29delinsAT	XP_011533406.1:n.201+28_201+29delinsAT
XM_011535107.3:c.321+28_321+29delinsAT	XP_011533409.1:n.321+28_321+29delinsAT
XM_011535109.3:c.-160+28_-160+29delinsAT	XP_011533411.1:n.-160+28_-160+29delinsAT
XM_011535113.2:c.321+28_321+29delinsAT	XP_011533415.1:n.321+28_321+29delinsAT
XM_017020625.2:c.321+28_321+29delinsAT	XP_016876114.1:n.321+28_321+29delinsAT
XM_017020626.1:c.321+28_321+29delinsAT	XP_016876115.1:n.321+28_321+29delinsAT
NM_016529.6:c.321+28_321+29delinsAT MANE Select	NP_057613.4:n.321+28_321+29delinsAT