Canonical Allele Identifier: CA2306111601
Gene: ATP8B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57694512_57694516delinsAACAT , CM000680.2:g.57694512_57694516delinsAACAT GRCh38
NC_000018.9:g.55361744_55361748delinsAACAT , CM000680.1:g.55361744_55361748delinsAACAT GRCh37
NC_000018.8:g.53512742_53512746delinsAACAT NCBI36
NG_007148.2:g.113580_113584delinsATGTT
NG_007148.3:g.114307_114311delinsATGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000642462.1:c.1029+66_1029+70delinsATGTT ENSP00000494712.1:n.1029+66_1029+70delinsATGTT
ENST00000648039.1:c.1029+66_1029+70delinsATGTT ENSP00000497863.1:n.1029+66_1029+70delinsATGTT
ENST00000648467.1:c.862+66_862+70delinsATGTT
ENST00000648908.2:c.1029+66_1029+70delinsATGTT MANE Select ENSP00000497896.1:n.1029+66_1029+70delinsATGTT
ENST00000283684.8:c.1029+66_1029+70delinsATGTT ENSP00000283684.4:n.1029+66_1029+70delinsATGTT
ENST00000536015.5:c.1029+66_1029+70delinsATGTT ENSP00000445359.1:n.1029+66_1029+70delinsATGTT
NM_005603.4:c.1029+66_1029+70delinsATGTT NP_005594.1:n.1029+66_1029+70delinsATGTT
XM_006722481.2:c.1029+66_1029+70delinsATGTT XP_006722544.1:n.1029+66_1029+70delinsATGTT
XM_011526020.1:c.1029+66_1029+70delinsATGTT XP_011524322.1:n.1029+66_1029+70delinsATGTT
XM_011526021.1:c.1029+66_1029+70delinsATGTT XP_011524323.1:n.1029+66_1029+70delinsATGTT
XM_011526022.1:c.1029+66_1029+70delinsATGTT XP_011524324.1:n.1029+66_1029+70delinsATGTT
XM_011526023.1:c.915+66_915+70delinsATGTT XP_011524325.1:n.915+66_915+70delinsATGTT
XM_011526024.1:c.309+66_309+70delinsATGTT XP_011524326.1:n.309+66_309+70delinsATGTT
XR_935525.1:n.32-1433_32-1429delinsAACAT
XR_935526.1:n.32-1433_32-1429delinsAACAT
NM_005603.6:c.1029+66_1029+70delinsATGTT NP_005594.2:n.1029+66_1029+70delinsATGTT
XM_006722481.4:c.1029+66_1029+70delinsATGTT XP_006722544.1:n.1029+66_1029+70delinsATGTT
XM_011526023.3:c.915+66_915+70delinsATGTT XP_011524325.1:n.915+66_915+70delinsATGTT
NM_001374385.1:c.1029+66_1029+70delinsATGTT MANE Select NP_001361314.1:n.1029+66_1029+70delinsATGTT
NM_001374386.1:c.879+66_879+70delinsATGTT NP_001361315.1:n.879+66_879+70delinsATGTT