Canonical Allele Identifier: CA8974904

Gene: ATP8B1

Linked Data

• dbSNP Id: rs755399327
• ExAC: 18:55373703 CAGAAAGTTAACA / C
• gnomAD v2: 18-55373703-CAGAAAGTTAACA-C
• MyVariant Identifiers: chr18:g.55373704_55373715del (hg19) ; chr18:g.57706472_57706483del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57706473_57706484del , CM000680.2:g.57706473_57706484del	GRCh38
NC_000018.9:g.55373705_55373716del , CM000680.1:g.55373705_55373716del	GRCh37
NC_000018.8:g.53524703_53524714del	NCBI36
NG_007148.2:g.101613_101624del
NG_007148.3:g.102340_102351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.279+7_279+18del	ENSP00000494712.1:n.279+7_279+18del
ENST00000648039.1:c.279+7_279+18del	ENSP00000497863.1:n.279+7_279+18del
ENST00000648467.1:c.226+7_226+18del
ENST00000648908.2:c.279+7_279+18del MANE Select	ENSP00000497896.1:n.279+7_279+18del
ENST00000283684.8:c.279+7_279+18del	ENSP00000283684.4:n.279+7_279+18del
ENST00000536015.5:c.279+7_279+18del	ENSP00000445359.1:n.279+7_279+18del
ENST00000589147.5:n.173+7_173+18del
ENST00000591728.1:c.182-1815_182-1804del	ENSP00000467767.1:n.182-1815_182-1804del
NM_005603.4:c.279+7_279+18del	NP_005594.1:n.279+7_279+18del
XM_006722481.2:c.279+7_279+18del	XP_006722544.1:n.279+7_279+18del
XM_011526020.1:c.279+7_279+18del	XP_011524322.1:n.279+7_279+18del
XM_011526021.1:c.279+7_279+18del	XP_011524323.1:n.279+7_279+18del
XM_011526022.1:c.279+7_279+18del	XP_011524324.1:n.279+7_279+18del
XM_011526023.1:c.279+7_279+18del	XP_011524325.1:n.279+7_279+18del
XR_935525.1:n.123+10437_123+10448del
XR_935526.1:n.124-190_124-179del
NM_005603.6:c.279+7_279+18del	NP_005594.2:n.279+7_279+18del
XM_006722481.4:c.279+7_279+18del	XP_006722544.1:n.279+7_279+18del
XM_011526023.3:c.279+7_279+18del	XP_011524325.1:n.279+7_279+18del
NM_001374385.1:c.279+7_279+18del MANE Select	NP_001361314.1:n.279+7_279+18del
NM_001374386.1:c.130-1815_130-1804del	NP_001361315.1:n.130-1815_130-1804del