Canonical Allele Identifier: CA1306208106
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168932363_168932372delinsATTCCAACAC , CM000664.2:g.168932363_168932372delinsATTCCAACAC GRCh38
NC_000002.11:g.169788873_169788882delinsATTCCAACAC , CM000664.1:g.169788873_169788882delinsATTCCAACAC GRCh37
NC_000002.10:g.169497119_169497128delinsATTCCAACAC NCBI36
NG_007374.1:g.103952_103961delinsGTGTTGGAAT
NG_007374.2:g.104025_104034delinsGTGTTGGAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.1530+5_1530+14delinsGTGTTGGAAT ENSP00000497165.1:n.1530+5_1530+14delinsGTGTTGGAAT
ENST00000650372.1:c.3213+5_3213+14delinsGTGTTGGAAT MANE Select ENSP00000497931.1:n.3213+5_3213+14delinsGTGTTGGAAT
ENST00000263817.6:c.3213+5_3213+14delinsGTGTTGGAAT ENSP00000263817.6:n.3213+5_3213+14delinsGTGTTGGAAT
ENST00000439188.1:c.1902+5_1902+14delinsGTGTTGGAAT ENSP00000416058.1:n.1902+5_1902+14delinsGTGTTGGAAT
NM_003742.2:c.3213+5_3213+14delinsGTGTTGGAAT NP_003733.2:n.3213+5_3213+14delinsGTGTTGGAAT
XM_006712817.2:c.3255+5_3255+14delinsGTGTTGGAAT XP_006712880.1:n.3255+5_3255+14delinsGTGTTGGAAT
XM_011512077.1:c.3315+5_3315+14delinsGTGTTGGAAT XP_011510379.1:n.3315+5_3315+14delinsGTGTTGGAAT
XM_011512078.1:c.3315+5_3315+14delinsGTGTTGGAAT XP_011510380.1:n.3315+5_3315+14delinsGTGTTGGAAT
XM_011512079.1:c.3315+5_3315+14delinsGTGTTGGAAT XP_011510381.1:n.3315+5_3315+14delinsGTGTTGGAAT
XM_011512081.1:c.1539+5_1539+14delinsGTGTTGGAAT XP_011510383.1:n.1539+5_1539+14delinsGTGTTGGAAT
NM_003742.4:c.3213+5_3213+14delinsGTGTTGGAAT MANE Select NP_003733.2:n.3213+5_3213+14delinsGTGTTGGAAT
XM_006712817.3:c.3255+5_3255+14delinsGTGTTGGAAT XP_006712880.1:n.3255+5_3255+14delinsGTGTTGGAAT
XM_011512077.2:c.3315+5_3315+14delinsGTGTTGGAAT XP_011510379.1:n.3315+5_3315+14delinsGTGTTGGAAT
XM_011512078.2:c.3315+5_3315+14delinsGTGTTGGAAT XP_011510380.1:n.3315+5_3315+14delinsGTGTTGGAAT
XM_011512081.2:c.1539+5_1539+14delinsGTGTTGGAAT XP_011510383.1:n.1539+5_1539+14delinsGTGTTGGAAT
XM_017005165.1:c.3315+5_3315+14delinsGTGTTGGAAT XP_016860654.1:n.3315+5_3315+14delinsGTGTTGGAAT
XM_017005166.1:c.2544+5_2544+14delinsGTGTTGGAAT XP_016860655.1:n.2544+5_2544+14delinsGTGTTGGAAT
XM_017005167.1:c.1998+5_1998+14delinsGTGTTGGAAT XP_016860656.1:n.1998+5_1998+14delinsGTGTTGGAAT