Canonical Allele Identifier: CA3004823044
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87423818_87423819del , CM000669.2:g.87423818_87423819del GRCh38
NC_000007.13:g.87053134_87053135del , CM000669.1:g.87053134_87053135del GRCh37
NC_000007.12:g.86891070_86891071del NCBI36
NG_007118.1:g.61614_61615del
NG_007118.2:g.61614_61615del

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.2211+87_2211+88del ENSP00000352135.3:n.2211+87_2211+88del
ENST00000649586.2:c.2211+87_2211+88del MANE Select ENSP00000496956.2:n.2211+87_2211+88del
ENST00000265723.8:c.2211+87_2211+88del ENSP00000265723.4:n.2211+87_2211+88del
ENST00000358400.7:c.2211+87_2211+88del ENSP00000351172.3:n.2211+87_2211+88del
ENST00000359206.7:c.2211+87_2211+88del ENSP00000352135.3:n.2211+87_2211+88del
ENST00000453593.5:c.2211+87_2211+88del ENSP00000392983.1:n.2211+87_2211+88del
ENST00000469770.1:n.502_503del
NM_000443.3:c.2211+87_2211+88del NP_000434.1:n.2211+87_2211+88del
NM_018849.2:c.2211+87_2211+88del NP_061337.1:n.2211+87_2211+88del
NM_018850.2:c.2211+87_2211+88del NP_061338.1:n.2211+87_2211+88del
XM_011516308.1:c.2211+87_2211+88del XP_011514610.1:n.2211+87_2211+88del
XM_011516309.1:c.2211+87_2211+88del XP_011514611.1:n.2211+87_2211+88del
XM_011516310.1:c.2211+87_2211+88del XP_011514612.1:n.2211+87_2211+88del
XM_011516311.1:c.2211+87_2211+88del XP_011514613.1:n.2211+87_2211+88del
XM_011516312.1:c.2211+87_2211+88del XP_011514614.1:n.2211+87_2211+88del
XM_011516313.1:c.2211+87_2211+88del XP_011514615.1:n.2211+87_2211+88del
XM_011516314.1:c.2232+87_2232+88del XP_011514616.1:n.2232+87_2232+88del
XM_011516315.1:c.1551+87_1551+88del XP_011514617.1:n.1551+87_1551+88del
XR_927478.1:n.2307+87_2307+88del
XM_011516308.3:c.2481+87_2481+88del XP_011514610.3:n.2481+87_2481+88del
XM_011516309.3:c.2481+87_2481+88del XP_011514611.3:n.2481+87_2481+88del
XM_011516310.3:c.2481+87_2481+88del XP_011514612.3:n.2481+87_2481+88del
XM_011516311.3:c.2481+87_2481+88del XP_011514613.3:n.2481+87_2481+88del
XM_011516312.3:c.2481+87_2481+88del XP_011514614.3:n.2481+87_2481+88del
XM_011516313.3:c.2481+87_2481+88del XP_011514615.2:n.2481+87_2481+88del
XM_011516315.3:c.1551+87_1551+88del XP_011514617.2:n.1551+87_1551+88del
XM_017012323.2:c.2211+87_2211+88del XP_016867812.1:n.2211+87_2211+88del
XR_001744809.2:n.2982+87_2982+88del
XR_001744810.2:n.2977+87_2977+88del
NM_000443.4:c.2211+87_2211+88del MANE Select NP_000434.1:n.2211+87_2211+88del
NM_018849.3:c.2211+87_2211+88del NP_061337.1:n.2211+87_2211+88del
NM_018850.3:c.2211+87_2211+88del NP_061338.1:n.2211+87_2211+88del