Canonical Allele Identifier: CA1723579259
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87417241_87417245delinsGATAA , CM000669.2:g.87417241_87417245delinsGATAA GRCh38
NC_000007.13:g.87046557_87046561delinsGATAA , CM000669.1:g.87046557_87046561delinsGATAA GRCh37
NC_000007.12:g.86884493_86884497delinsGATAA NCBI36
NG_007118.1:g.68188_68192delinsTTATC
NG_007118.2:g.68188_68192delinsTTATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.2682+67_2682+71delinsTTATC ENSP00000352135.3:n.2682+67_2682+71delinsTTATC
ENST00000649586.2:c.2682+67_2682+71delinsTTATC MANE Select ENSP00000496956.2:n.2682+67_2682+71delinsTTATC
ENST00000265723.8:c.2682+67_2682+71delinsTTATC ENSP00000265723.4:n.2682+67_2682+71delinsTTATC
ENST00000358400.7:c.2682+67_2682+71delinsTTATC ENSP00000351172.3:n.2682+67_2682+71delinsTTATC
ENST00000359206.7:c.2682+67_2682+71delinsTTATC ENSP00000352135.3:n.2682+67_2682+71delinsTTATC
ENST00000453593.5:c.2682+67_2682+71delinsTTATC ENSP00000392983.1:n.2682+67_2682+71delinsTTATC
NM_000443.3:c.2682+67_2682+71delinsTTATC NP_000434.1:n.2682+67_2682+71delinsTTATC
NM_018849.2:c.2682+67_2682+71delinsTTATC NP_061337.1:n.2682+67_2682+71delinsTTATC
NM_018850.2:c.2682+67_2682+71delinsTTATC NP_061338.1:n.2682+67_2682+71delinsTTATC
XM_011516308.1:c.2682+67_2682+71delinsTTATC XP_011514610.1:n.2682+67_2682+71delinsTTATC
XM_011516309.1:c.2682+67_2682+71delinsTTATC XP_011514611.1:n.2682+67_2682+71delinsTTATC
XM_011516310.1:c.2577+67_2577+71delinsTTATC XP_011514612.1:n.2577+67_2577+71delinsTTATC
XM_011516311.1:c.2682+67_2682+71delinsTTATC XP_011514613.1:n.2682+67_2682+71delinsTTATC
XM_011516312.1:c.2682+67_2682+71delinsTTATC XP_011514614.1:n.2682+67_2682+71delinsTTATC
XM_011516313.1:c.2682+67_2682+71delinsTTATC XP_011514615.1:n.2682+67_2682+71delinsTTATC
XM_011516314.1:c.2703+67_2703+71delinsTTATC XP_011514616.1:n.2703+67_2703+71delinsTTATC
XM_011516315.1:c.2022+67_2022+71delinsTTATC XP_011514617.1:n.2022+67_2022+71delinsTTATC
XR_927478.1:n.2778+67_2778+71delinsTTATC
XM_011516308.3:c.2952+67_2952+71delinsTTATC XP_011514610.3:n.2952+67_2952+71delinsTTATC
XM_011516309.3:c.2952+67_2952+71delinsTTATC XP_011514611.3:n.2952+67_2952+71delinsTTATC
XM_011516310.3:c.2847+67_2847+71delinsTTATC XP_011514612.3:n.2847+67_2847+71delinsTTATC
XM_011516311.3:c.2952+67_2952+71delinsTTATC XP_011514613.3:n.2952+67_2952+71delinsTTATC
XM_011516312.3:c.2952+67_2952+71delinsTTATC XP_011514614.3:n.2952+67_2952+71delinsTTATC
XM_011516313.3:c.2952+67_2952+71delinsTTATC XP_011514615.2:n.2952+67_2952+71delinsTTATC
XM_011516315.3:c.2022+67_2022+71delinsTTATC XP_011514617.2:n.2022+67_2022+71delinsTTATC
XM_017012323.2:c.2682+67_2682+71delinsTTATC XP_016867812.1:n.2682+67_2682+71delinsTTATC
XR_001744809.2:n.3453+67_3453+71delinsTTATC
NM_000443.4:c.2682+67_2682+71delinsTTATC MANE Select NP_000434.1:n.2682+67_2682+71delinsTTATC
NM_018849.3:c.2682+67_2682+71delinsTTATC NP_061337.1:n.2682+67_2682+71delinsTTATC
NM_018850.3:c.2682+67_2682+71delinsTTATC NP_061338.1:n.2682+67_2682+71delinsTTATC