Canonical Allele Identifier: CA2176240423
Gene: ATP8B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50140315_50140328delinsCTGAACACTCCAGG , CM000677.2:g.50140315_50140328delinsCTGAACACTCCAGG GRCh38
NC_000015.9:g.50432512_50432525delinsCTGAACACTCCAGG , CM000677.1:g.50432512_50432525delinsCTGAACACTCCAGG GRCh37
NC_000015.8:g.48219804_48219817delinsCTGAACACTCCAGG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000558829.1:c.-42-33320_-42-33307delinsCCTGGAGTGTTCAG ENSP00000453539.1:n.-42-33320_-42-33307delinsCCTGGAGTGTTCAG
XM_011522056.1:c.-42-33320_-42-33307delinsCCTGGAGTGTTCAG XP_011520358.1:n.-42-33320_-42-33307delinsCCTGGAGTGTTCAG
XM_011522056.3:c.-42-33320_-42-33307delinsCCTGGAGTGTTCAG XP_011520358.3:n.-42-33320_-42-33307delinsCCTGGAGTGTTCAG
XM_017022587.2:c.-42-33320_-42-33307delinsCCTGGAGTGTTCAG XP_016878076.2:n.-42-33320_-42-33307delinsCCTGGAGTGTTCAG