Canonical Allele Identifier: CA1723579202
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87417188_87417191delinsAATT , CM000669.2:g.87417188_87417191delinsAATT GRCh38
NC_000007.13:g.87046504_87046507delinsAATT , CM000669.1:g.87046504_87046507delinsAATT GRCh37
NC_000007.12:g.86884440_86884443delinsAATT NCBI36
NG_007118.1:g.68242_68245delinsAATT
NG_007118.2:g.68242_68245delinsAATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.2682+121_2682+124delinsAATT ENSP00000352135.3:n.2682+121_2682+124delinsAATT
ENST00000649586.2:c.2682+121_2682+124delinsAATT MANE Select ENSP00000496956.2:n.2682+121_2682+124delinsAATT
ENST00000265723.8:c.2682+121_2682+124delinsAATT ENSP00000265723.4:n.2682+121_2682+124delinsAATT
ENST00000358400.7:c.2682+121_2682+124delinsAATT ENSP00000351172.3:n.2682+121_2682+124delinsAATT
ENST00000359206.7:c.2682+121_2682+124delinsAATT ENSP00000352135.3:n.2682+121_2682+124delinsAATT
ENST00000453593.5:c.2682+121_2682+124delinsAATT ENSP00000392983.1:n.2682+121_2682+124delinsAATT
NM_000443.3:c.2682+121_2682+124delinsAATT NP_000434.1:n.2682+121_2682+124delinsAATT
NM_018849.2:c.2682+121_2682+124delinsAATT NP_061337.1:n.2682+121_2682+124delinsAATT
NM_018850.2:c.2682+121_2682+124delinsAATT NP_061338.1:n.2682+121_2682+124delinsAATT
XM_011516308.1:c.2682+121_2682+124delinsAATT XP_011514610.1:n.2682+121_2682+124delinsAATT
XM_011516309.1:c.2682+121_2682+124delinsAATT XP_011514611.1:n.2682+121_2682+124delinsAATT
XM_011516310.1:c.2577+121_2577+124delinsAATT XP_011514612.1:n.2577+121_2577+124delinsAATT
XM_011516311.1:c.2682+121_2682+124delinsAATT XP_011514613.1:n.2682+121_2682+124delinsAATT
XM_011516312.1:c.2682+121_2682+124delinsAATT XP_011514614.1:n.2682+121_2682+124delinsAATT
XM_011516313.1:c.2682+121_2682+124delinsAATT XP_011514615.1:n.2682+121_2682+124delinsAATT
XM_011516314.1:c.2703+121_2703+124delinsAATT XP_011514616.1:n.2703+121_2703+124delinsAATT
XM_011516315.1:c.2022+121_2022+124delinsAATT XP_011514617.1:n.2022+121_2022+124delinsAATT
XR_927478.1:n.2778+121_2778+124delinsAATT
XM_011516308.3:c.2952+121_2952+124delinsAATT XP_011514610.3:n.2952+121_2952+124delinsAATT
XM_011516309.3:c.2952+121_2952+124delinsAATT XP_011514611.3:n.2952+121_2952+124delinsAATT
XM_011516310.3:c.2847+121_2847+124delinsAATT XP_011514612.3:n.2847+121_2847+124delinsAATT
XM_011516311.3:c.2952+121_2952+124delinsAATT XP_011514613.3:n.2952+121_2952+124delinsAATT
XM_011516312.3:c.2952+121_2952+124delinsAATT XP_011514614.3:n.2952+121_2952+124delinsAATT
XM_011516313.3:c.2952+121_2952+124delinsAATT XP_011514615.2:n.2952+121_2952+124delinsAATT
XM_011516315.3:c.2022+121_2022+124delinsAATT XP_011514617.2:n.2022+121_2022+124delinsAATT
XM_017012323.2:c.2682+121_2682+124delinsAATT XP_016867812.1:n.2682+121_2682+124delinsAATT
XR_001744809.2:n.3453+121_3453+124delinsAATT
NM_000443.4:c.2682+121_2682+124delinsAATT MANE Select NP_000434.1:n.2682+121_2682+124delinsAATT
NM_018849.3:c.2682+121_2682+124delinsAATT NP_061337.1:n.2682+121_2682+124delinsAATT
NM_018850.3:c.2682+121_2682+124delinsAATT NP_061338.1:n.2682+121_2682+124delinsAATT