Canonical Allele Identifier: CA2306111765

Gene: ATP8B1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57694904_57694915delinsCCTATAATCCCA , CM000680.2:g.57694904_57694915delinsCCTATAATCCCA	GRCh38
NC_000018.9:g.55362136_55362147delinsCCTATAATCCCA , CM000680.1:g.55362136_55362147delinsCCTATAATCCCA	GRCh37
NC_000018.8:g.53513134_53513145delinsCCTATAATCCCA	NCBI36
NG_007148.2:g.113181_113192delinsTGGGATTATAGG
NG_007148.3:g.113908_113919delinsTGGGATTATAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.941-245_941-234delinsTGGGATTATAGG	ENSP00000494712.1:n.941-245_941-234delinsTGGGATTATAGG
ENST00000648039.1:c.941-245_941-234delinsTGGGATTATAGG	ENSP00000497863.1:n.941-245_941-234delinsTGGGATTATAGG
ENST00000648467.1:c.774-245_774-234delinsTGGGATTATAGG
ENST00000648908.2:c.941-245_941-234delinsTGGGATTATAGG MANE Select	ENSP00000497896.1:n.941-245_941-234delinsTGGGATTATAGG
ENST00000283684.8:c.941-245_941-234delinsTGGGATTATAGG	ENSP00000283684.4:n.941-245_941-234delinsTGGGATTATAGG
ENST00000536015.5:c.941-245_941-234delinsTGGGATTATAGG	ENSP00000445359.1:n.941-245_941-234delinsTGGGATTATAGG
NM_005603.4:c.941-245_941-234delinsTGGGATTATAGG	NP_005594.1:n.941-245_941-234delinsTGGGATTATAGG
XM_006722481.2:c.941-245_941-234delinsTGGGATTATAGG	XP_006722544.1:n.941-245_941-234delinsTGGGATTATAGG
XM_011526020.1:c.941-245_941-234delinsTGGGATTATAGG	XP_011524322.1:n.941-245_941-234delinsTGGGATTATAGG
XM_011526021.1:c.941-245_941-234delinsTGGGATTATAGG	XP_011524323.1:n.941-245_941-234delinsTGGGATTATAGG
XM_011526022.1:c.941-245_941-234delinsTGGGATTATAGG	XP_011524324.1:n.941-245_941-234delinsTGGGATTATAGG
XM_011526023.1:c.827-245_827-234delinsTGGGATTATAGG	XP_011524325.1:n.827-245_827-234delinsTGGGATTATAGG
XM_011526024.1:c.221-245_221-234delinsTGGGATTATAGG	XP_011524326.1:n.221-245_221-234delinsTGGGATTATAGG
XR_935525.1:n.32-1041_32-1030delinsCCTATAATCCCA
XR_935526.1:n.32-1041_32-1030delinsCCTATAATCCCA
NM_005603.6:c.941-245_941-234delinsTGGGATTATAGG	NP_005594.2:n.941-245_941-234delinsTGGGATTATAGG
XM_006722481.4:c.941-245_941-234delinsTGGGATTATAGG	XP_006722544.1:n.941-245_941-234delinsTGGGATTATAGG
XM_011526023.3:c.827-245_827-234delinsTGGGATTATAGG	XP_011524325.1:n.827-245_827-234delinsTGGGATTATAGG
NM_001374385.1:c.941-245_941-234delinsTGGGATTATAGG MANE Select	NP_001361314.1:n.941-245_941-234delinsTGGGATTATAGG
NM_001374386.1:c.791-245_791-234delinsTGGGATTATAGG	NP_001361315.1:n.791-245_791-234delinsTGGGATTATAGG