Canonical Allele Identifier: CA1306207503
Gene: ABCB11 HGNC NCBI

Linked Data

dbSNP Id: rs1692237353

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168944989_168944990insTTTAGTTATTTTTC , CM000664.2:g.168944989_168944990insTTTAGTTATTTTTC GRCh38
NC_000002.11:g.169801499_169801500insTTTAGTTATTTTTC , CM000664.1:g.169801499_169801500insTTTAGTTATTTTTC GRCh37
NC_000002.10:g.169509745_169509746insTTTAGTTATTTTTC NCBI36
NG_007374.1:g.91334_91335insGAAAAATAACTAAA
NG_007374.2:g.91407_91408insGAAAAATAACTAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.661-29_661-28insGAAAAATAACTAAA ENSP00000497165.1:n.661-29_661-28insGAAAAATAACTAAA
ENST00000650372.1:c.2344-29_2344-28insGAAAAATAACTAAA MANE Select ENSP00000497931.1:n.2344-29_2344-28insGAAAAATAACTAAA
ENST00000263817.6:c.2344-29_2344-28insGAAAAATAACTAAA ENSP00000263817.6:n.2344-29_2344-28insGAAAAATAACTAAA
ENST00000439188.1:c.1033-29_1033-28insGAAAAATAACTAAA ENSP00000416058.1:n.1033-29_1033-28insGAAAAATAACTAAA
NM_003742.2:c.2344-29_2344-28insGAAAAATAACTAAA NP_003733.2:n.2344-29_2344-28insGAAAAATAACTAAA
XM_006712817.2:c.2386-29_2386-28insGAAAAATAACTAAA XP_006712880.1:n.2386-29_2386-28insGAAAAATAACTAAA
XM_011512077.1:c.2446-29_2446-28insGAAAAATAACTAAA XP_011510379.1:n.2446-29_2446-28insGAAAAATAACTAAA
XM_011512078.1:c.2446-29_2446-28insGAAAAATAACTAAA XP_011510380.1:n.2446-29_2446-28insGAAAAATAACTAAA
XM_011512079.1:c.2446-29_2446-28insGAAAAATAACTAAA XP_011510381.1:n.2446-29_2446-28insGAAAAATAACTAAA
XM_011512080.1:c.2446-29_2446-28insGAAAAATAACTAAA XP_011510382.1:n.2446-29_2446-28insGAAAAATAACTAAA
XM_011512081.1:c.670-29_670-28insGAAAAATAACTAAA XP_011510383.1:n.670-29_670-28insGAAAAATAACTAAA
NM_003742.4:c.2344-29_2344-28insGAAAAATAACTAAA MANE Select NP_003733.2:n.2344-29_2344-28insGAAAAATAACTAAA
XM_006712817.3:c.2386-29_2386-28insGAAAAATAACTAAA XP_006712880.1:n.2386-29_2386-28insGAAAAATAACTAAA
XM_011512077.2:c.2446-29_2446-28insGAAAAATAACTAAA XP_011510379.1:n.2446-29_2446-28insGAAAAATAACTAAA
XM_011512078.2:c.2446-29_2446-28insGAAAAATAACTAAA XP_011510380.1:n.2446-29_2446-28insGAAAAATAACTAAA
XM_011512080.2:c.2446-29_2446-28insGAAAAATAACTAAA XP_011510382.1:n.2446-29_2446-28insGAAAAATAACTAAA
XM_011512081.2:c.670-29_670-28insGAAAAATAACTAAA XP_011510383.1:n.670-29_670-28insGAAAAATAACTAAA
XM_017005165.1:c.2446-29_2446-28insGAAAAATAACTAAA XP_016860654.1:n.2446-29_2446-28insGAAAAATAACTAAA
XM_017005166.1:c.1675-29_1675-28insGAAAAATAACTAAA XP_016860655.1:n.1675-29_1675-28insGAAAAATAACTAAA
XM_017005167.1:c.1129-29_1129-28insGAAAAATAACTAAA XP_016860656.1:n.1129-29_1129-28insGAAAAATAACTAAA