Canonical Allele Identifier: CA2753094770

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944888_168944896del , CM000664.2:g.168944888_168944896del	GRCh38
NC_000002.11:g.169801398_169801406del , CM000664.1:g.169801398_169801406del	GRCh37
NC_000002.10:g.169509644_169509652del	NCBI36
NG_007374.1:g.91428_91436del
NG_007374.2:g.91501_91509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.726_734del	ENSP00000497165.1:p.Ala243_Gly245del
ENST00000650372.1:c.2409_2417del MANE Select	ENSP00000497931.1:p.Ala804_Gly806del
ENST00000263817.6:c.2409_2417del	ENSP00000263817.6:p.Ala804_Gly806del
ENST00000439188.1:c.1098_1106del	ENSP00000416058.1:n.1098_1106del
NM_003742.2:c.2409_2417del	NP_003733.2:p.Ala804_Gly806del
XM_006712817.2:c.2451_2459del	XP_006712880.1:p.Ala818_Gly820del
XM_011512077.1:c.2511_2519del	XP_011510379.1:p.Ala838_Gly840del
XM_011512078.1:c.2511_2519del	XP_011510380.1:p.Ala838_Gly840del
XM_011512079.1:c.2511_2519del	XP_011510381.1:p.Ala838_Gly840del
XM_011512080.1:c.2511_2519del	XP_011510382.1:p.Ala838_Gly840del
XM_011512081.1:c.735_743del	XP_011510383.1:p.Ala246_Gly248del
NM_003742.4:c.2409_2417del MANE Select	NP_003733.2:p.Ala804_Gly806del
XM_006712817.3:c.2451_2459del	XP_006712880.1:p.Ala818_Gly820del
XM_011512077.2:c.2511_2519del	XP_011510379.1:p.Ala838_Gly840del
XM_011512078.2:c.2511_2519del	XP_011510380.1:p.Ala838_Gly840del
XM_011512080.2:c.2511_2519del	XP_011510382.1:p.Ala838_Gly840del
XM_011512081.2:c.735_743del	XP_011510383.1:p.Ala246_Gly248del
XM_017005165.1:c.2511_2519del	XP_016860654.1:p.Ala838_Gly840del
XM_017005166.1:c.1740_1748del	XP_016860655.1:p.Ala581_Gly583del
XM_017005167.1:c.1194_1202del	XP_016860656.1:p.Ala399_Gly401del