Canonical Allele Identifier: CA6922461
Community Standard Title: NM_016529.6(ATP8A2):c.130_131del (p.Ala44HisfsTer?)
Gene: ATP8A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.25469030_25469031del , CM000675.2:g.25469030_25469031del GRCh38
NC_000013.10:g.26043168_26043169del , CM000675.1:g.26043168_26043169del GRCh37
NC_000013.9:g.24941168_24941169del NCBI36
NG_042855.1:g.102020_102021del

Transcript Alleles

HGVS Amino-acid Change
NM_016529.6:c.130_131del MANE Select NP_057613.4:p.Ala44HisfsTer?
ENST00000381655.7:c.130_131del MANE Select ENSP00000371070.2:p.Ala44HisfsTer?
NM_001313741.1:c.10_11del NP_001300670.1:p.Ala4HisfsTer?
NM_016529.4:c.130_131del NP_057613.4:p.Ala44HisfsTer?
NM_016529.5:c.130_131del NP_057613.4:p.Ala44HisfsTer?
ENST00000255283.9:c.10_11del ENSP00000255283.9:p.Ala4HisfsTer?
ENST00000281620.10:c.-341_-340del ENSP00000281620.6:n.-341_-340del
ENST00000281620.11:c.130_131del ENSP00000281620.7:p.Ala44HisfsTer?
ENST00000381648.7:n.54_55del
ENST00000381655.6:c.130_131del ENSP00000371070.2:p.Ala44HisfsTer?
ENST00000682472.1:c.130_131del ENSP00000508103.1:p.Ala44HisfsTer?
ENST00000682580.1:n.82_83del
ENST00000682943.1:c.130_131del ENSP00000507323.1:p.Ala44HisfsTer?
ENST00000683303.1:c.130_131del ENSP00000508339.1:p.Ala44HisfsTer?
ENST00000683960.1:c.130_131del ENSP00000506846.1:p.Ala44HisfsTer?
ENST00000684025.1:n.195_196del
ENST00000684283.1:c.130_131del ENSP00000507994.1:p.Ala44HisfsTer?
ENST00000684424.1:c.10_11del ENSP00000507489.1:p.Ala4HisfsTer?
XM_005266419.1:c.10_11del XP_005266476.1:p.Ala4HisfsTer?
XM_011535103.1:c.130_131del XP_011533405.1:p.Ala44HisfsTer?
XM_011535106.1:c.130_131del XP_011533408.1:p.Ala44HisfsTer?
XM_011535107.1:c.130_131del XP_011533409.1:p.Ala44HisfsTer?
XM_011535107.3:c.130_131del XP_011533409.1:p.Ala44HisfsTer?
XM_011535110.1:c.-346_-345del XP_011533412.1:n.-346_-345del
XM_011535111.1:c.-346_-345del XP_011533413.1:n.-346_-345del
XM_011535113.1:c.130_131del XP_011533415.1:p.Ala44HisfsTer?
XM_011535113.2:c.130_131del XP_011533415.1:p.Ala44HisfsTer?
XM_011535114.1:c.130_131del XP_011533416.1:p.Ala44HisfsTer?
XM_017020625.2:c.130_131del XP_016876114.1:p.Ala44HisfsTer?
XM_017020626.1:c.130_131del XP_016876115.1:p.Ala44HisfsTer?