Canonical Allele Identifier: CA2812634496

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57674758_57674759insAG , CM000680.2:g.57674758_57674759insAG	GRCh38
NC_000018.9:g.55341990_55341991insAG , CM000680.1:g.55341990_55341991insAG	GRCh37
NC_000018.8:g.53492988_53492989insAG	NCBI36
NG_007148.2:g.133337_133338insCT
NG_007148.3:g.134064_134065insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.1819+75_1819+76insCT	ENSP00000494712.1:n.1819+75_1819+76insCT
ENST00000648039.1:c.1819+75_1819+76insCT	ENSP00000497863.1:n.1819+75_1819+76insCT
ENST00000648467.1:c.1684+75_1684+76insCT
ENST00000648908.2:c.1819+75_1819+76insCT MANE Select	ENSP00000497896.1:n.1819+75_1819+76insCT
ENST00000283684.8:c.1819+75_1819+76insCT	ENSP00000283684.4:n.1819+75_1819+76insCT
ENST00000536015.5:c.1819+75_1819+76insCT	ENSP00000445359.1:n.1819+75_1819+76insCT
NM_005603.4:c.1819+75_1819+76insCT	NP_005594.1:n.1819+75_1819+76insCT
XM_006722481.2:c.1819+75_1819+76insCT	XP_006722544.1:n.1819+75_1819+76insCT
XM_011526020.1:c.1819+75_1819+76insCT	XP_011524322.1:n.1819+75_1819+76insCT
XM_011526021.1:c.1819+75_1819+76insCT	XP_011524323.1:n.1819+75_1819+76insCT
XM_011526022.1:c.1819+75_1819+76insCT	XP_011524324.1:n.1819+75_1819+76insCT
XM_011526023.1:c.1705+75_1705+76insCT	XP_011524325.1:n.1705+75_1705+76insCT
XM_011526024.1:c.1099+75_1099+76insCT	XP_011524326.1:n.1099+75_1099+76insCT
NM_005603.6:c.1819+75_1819+76insCT	NP_005594.2:n.1819+75_1819+76insCT
XM_006722481.4:c.1819+75_1819+76insCT	XP_006722544.1:n.1819+75_1819+76insCT
XM_011526023.3:c.1705+75_1705+76insCT	XP_011524325.1:n.1705+75_1705+76insCT
NM_001374385.1:c.1819+75_1819+76insCT MANE Select	NP_001361314.1:n.1819+75_1819+76insCT
NM_001374386.1:c.1669+75_1669+76insCT	NP_001361315.1:n.1669+75_1669+76insCT