Canonical Allele Identifier: CA16619623
Gene: ATP8A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421707
ClinVar RCV Id: RCV000484789
dbSNP Id: rs1064795309
MyVariant Identifiers: chr13:g.26104239_26104244del (hg19) chr13:g.25530101_25530106del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.25530101_25530106del , CM000675.2:g.25530101_25530106del GRCh38
NC_000013.10:g.26104239_26104244del , CM000675.1:g.26104239_26104244del GRCh37
NC_000013.9:g.25002239_25002244del NCBI36
NG_042855.1:g.163091_163096del

Transcript Alleles

HGVS Amino-acid change
ENST00000281620.11:c.321+3_321+8del
ENST00000682472.1:c.321+3_321+8del
ENST00000682580.1:n.273+3_273+8del
ENST00000682942.1:n.762+3_762+8del
ENST00000682943.1:c.222-2171_222-2166del ENSP00000507323.1:n.222-2171_222-2166del
ENST00000683303.1:c.321+3_321+8del
ENST00000683845.1:n.761+3_761+8del
ENST00000683945.1:n.233+3_233+8del
ENST00000683960.1:c.321+3_321+8del
ENST00000684025.1:n.386+3_386+8del
ENST00000684283.1:c.321+3_321+8del
ENST00000684424.1:c.201+3_201+8del
ENST00000381655.7:c.321+3_321+8del
ENST00000255283.9:c.201+3_201+8del
ENST00000281620.10:c.-150+3_-150+8del
ENST00000381648.7:n.245+3_245+8del
ENST00000381655.6:c.321+3_321+8del
NM_001313741.1:c.201+3_201+8del
NM_016529.4:c.321+3_321+8del
NM_016529.5:c.321+3_321+8del
XM_005266419.1:c.201+3_201+8del
XM_011535103.1:c.321+3_321+8del
XM_011535104.1:c.201+3_201+8del
XM_011535106.1:c.321+3_321+8del
XM_011535107.1:c.321+3_321+8del
XM_011535108.1:c.-160+3_-160+8del
XM_011535109.1:c.-160+3_-160+8del
XM_011535110.1:c.-155+3_-155+8del
XM_011535111.1:c.-155+3_-155+8del
XM_011535112.1:c.-160+3_-160+8del
XM_011535113.1:c.321+3_321+8del
XM_011535114.1:c.321+3_321+8del
XM_011535104.3:c.201+3_201+8del
XM_011535107.3:c.321+3_321+8del
XM_011535109.3:c.-160+3_-160+8del
XM_011535113.2:c.321+3_321+8del
XM_017020625.2:c.321+3_321+8del
XM_017020626.1:c.321+3_321+8del
NM_016529.6:c.321+3_321+8del
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