Canonical Allele Identifier: CA990685174

Gene: ATP8B1

Linked Data

• dbSNP Id: rs1912702872
• gnomAD v3: 18-57694512-AACAT-A
• gnomAD v4: 18-57694512-AACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694515_57694518del , CM000680.2:g.57694515_57694518del	GRCh38
NC_000018.9:g.55361747_55361750del , CM000680.1:g.55361747_55361750del	GRCh37
NC_000018.8:g.53512745_53512748del	NCBI36
NG_007148.2:g.113580_113583del
NG_007148.3:g.114307_114310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1029+66_1029+69del	ENSP00000494712.1:n.1029+66_1029+69del
ENST00000648039.1:c.1029+66_1029+69del	ENSP00000497863.1:n.1029+66_1029+69del
ENST00000648467.1:c.862+66_862+69del
ENST00000648908.2:c.1029+66_1029+69del MANE Select	ENSP00000497896.1:n.1029+66_1029+69del
ENST00000283684.8:c.1029+66_1029+69del	ENSP00000283684.4:n.1029+66_1029+69del
ENST00000536015.5:c.1029+66_1029+69del	ENSP00000445359.1:n.1029+66_1029+69del
NM_005603.4:c.1029+66_1029+69del	NP_005594.1:n.1029+66_1029+69del
XM_006722481.2:c.1029+66_1029+69del	XP_006722544.1:n.1029+66_1029+69del
XM_011526020.1:c.1029+66_1029+69del	XP_011524322.1:n.1029+66_1029+69del
XM_011526021.1:c.1029+66_1029+69del	XP_011524323.1:n.1029+66_1029+69del
XM_011526022.1:c.1029+66_1029+69del	XP_011524324.1:n.1029+66_1029+69del
XM_011526023.1:c.915+66_915+69del	XP_011524325.1:n.915+66_915+69del
XM_011526024.1:c.309+66_309+69del	XP_011524326.1:n.309+66_309+69del
XR_935525.1:n.32-1430_32-1427del
XR_935526.1:n.32-1430_32-1427del
NM_005603.6:c.1029+66_1029+69del	NP_005594.2:n.1029+66_1029+69del
XM_006722481.4:c.1029+66_1029+69del	XP_006722544.1:n.1029+66_1029+69del
XM_011526023.3:c.915+66_915+69del	XP_011524325.1:n.915+66_915+69del
NM_001374385.1:c.1029+66_1029+69del MANE Select	NP_001361314.1:n.1029+66_1029+69del
NM_001374386.1:c.879+66_879+69del	NP_001361315.1:n.879+66_879+69del