Canonical Allele Identifier: CA2079675574

Gene: ATP8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.25530097_25530103delinsAGGTAAT , CM000675.2:g.25530097_25530103delinsAGGTAAT	GRCh38
NC_000013.10:g.26104235_26104241delinsAGGTAAT , CM000675.1:g.26104235_26104241delinsAGGTAAT	GRCh37
NC_000013.9:g.25002235_25002241delinsAGGTAAT	NCBI36
NG_042855.1:g.163087_163093delinsAGGTAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000281620.11:c.320_321+5delinsAGGTAAT
ENST00000682472.1:c.320_321+5delinsAGGTAAT
ENST00000682580.1:n.272_273+5delinsAGGTAAT
ENST00000682942.1:n.761_762+5delinsAGGTAAT
ENST00000682943.1:c.222-2175_222-2169delinsAGGTAAT	ENSP00000507323.1:n.222-2175_222-2169delinsAGGTAAT
ENST00000683303.1:c.320_321+5delinsAGGTAAT
ENST00000683845.1:n.760_761+5delinsAGGTAAT
ENST00000683945.1:n.232_233+5delinsAGGTAAT
ENST00000683960.1:c.320_321+5delinsAGGTAAT
ENST00000684025.1:n.385_386+5delinsAGGTAAT
ENST00000684283.1:c.320_321+5delinsAGGTAAT
ENST00000684424.1:c.200_201+5delinsAGGTAAT
ENST00000381655.7:c.320_321+5delinsAGGTAAT
ENST00000255283.9:c.200_201+5delinsAGGTAAT
ENST00000281620.10:c.-151_-150+5delinsAGGTAAT
ENST00000381648.7:n.244_245+5delinsAGGTAAT
ENST00000381655.6:c.320_321+5delinsAGGTAAT
NM_001313741.1:c.200_201+5delinsAGGTAAT
NM_016529.4:c.320_321+5delinsAGGTAAT
NM_016529.5:c.320_321+5delinsAGGTAAT
XM_005266419.1:c.200_201+5delinsAGGTAAT
XM_011535103.1:c.320_321+5delinsAGGTAAT
XM_011535104.1:c.200_201+5delinsAGGTAAT
XM_011535106.1:c.320_321+5delinsAGGTAAT
XM_011535107.1:c.320_321+5delinsAGGTAAT
XM_011535108.1:c.-161_-160+5delinsAGGTAAT
XM_011535109.1:c.-161_-160+5delinsAGGTAAT
XM_011535110.1:c.-156_-155+5delinsAGGTAAT
XM_011535111.1:c.-156_-155+5delinsAGGTAAT
XM_011535112.1:c.-161_-160+5delinsAGGTAAT
XM_011535113.1:c.320_321+5delinsAGGTAAT
XM_011535114.1:c.320_321+5delinsAGGTAAT
XM_011535104.3:c.200_201+5delinsAGGTAAT
XM_011535107.3:c.320_321+5delinsAGGTAAT
XM_011535109.3:c.-161_-160+5delinsAGGTAAT
XM_011535113.2:c.320_321+5delinsAGGTAAT
XM_017020625.2:c.320_321+5delinsAGGTAAT
XM_017020626.1:c.320_321+5delinsAGGTAAT
NM_016529.6:c.320_321+5delinsAGGTAAT