Canonical Allele Identifier: CA2586970394

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944727_168944731del , CM000664.2:g.168944727_168944731del	GRCh38
NC_000002.11:g.169801237_169801241del , CM000664.1:g.169801237_169801241del	GRCh37
NC_000002.10:g.169509483_169509487del	NCBI36
NG_007374.1:g.91593_91597del
NG_007374.2:g.91666_91670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.801_805del	ENSP00000497165.1:p.Lys268AlafsTer3
ENST00000650372.1:c.2484_2488del MANE Select	ENSP00000497931.1:p.Lys829AlafsTer3
ENST00000263817.6:c.2484_2488del	ENSP00000263817.6:p.Lys829AlafsTer3
ENST00000439188.1:c.1173_1177del	ENSP00000416058.1:n.1173_1177del
NM_003742.2:c.2484_2488del	NP_003733.2:p.Lys829AlafsTer3
XM_006712817.2:c.2526_2530del	XP_006712880.1:p.Lys843AlafsTer3
XM_011512077.1:c.2586_2590del	XP_011510379.1:p.Lys863AlafsTer3
XM_011512078.1:c.2586_2590del	XP_011510380.1:p.Lys863AlafsTer3
XM_011512079.1:c.2586_2590del	XP_011510381.1:p.Lys863AlafsTer3
XM_011512080.1:c.2586_2590del	XP_011510382.1:p.Lys863AlafsTer3
XM_011512081.1:c.810_814del	XP_011510383.1:p.Lys271AlafsTer3
NM_003742.4:c.2484_2488del MANE Select	NP_003733.2:p.Lys829AlafsTer3
XM_006712817.3:c.2526_2530del	XP_006712880.1:p.Lys843AlafsTer3
XM_011512077.2:c.2586_2590del	XP_011510379.1:p.Lys863AlafsTer3
XM_011512078.2:c.2586_2590del	XP_011510380.1:p.Lys863AlafsTer3
XM_011512080.2:c.2586_2590del	XP_011510382.1:p.Lys863AlafsTer3
XM_011512081.2:c.810_814del	XP_011510383.1:p.Lys271AlafsTer3
XM_017005165.1:c.2586_2590del	XP_016860654.1:p.Lys863AlafsTer3
XM_017005166.1:c.1815_1819del	XP_016860655.1:p.Lys606AlafsTer3
XM_017005167.1:c.1269_1273del	XP_016860656.1:p.Lys424AlafsTer3