Canonical Allele Identifier: CA969654007
Gene: ATP8B4 HGNC NCBI

Linked Data

dbSNP Id: rs2044189083
gnomAD v3: 15-50140283-AG-A
gnomAD v4: 15-50140283-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50140284del , CM000677.2:g.50140284del GRCh38
NC_000015.9:g.50432481del , CM000677.1:g.50432481del GRCh37
NC_000015.8:g.48219773del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000558829.1:c.-42-33276del ENSP00000453539.1:n.-42-33276del
XM_011522056.1:c.-42-33276del XP_011520358.1:n.-42-33276del
XM_011522056.3:c.-42-33276del XP_011520358.3:n.-42-33276del
XM_017022587.2:c.-42-33276del XP_016878076.2:n.-42-33276del
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