Canonical Allele Identifier: CA3038448497

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932352_168932358del , CM000664.2:g.168932352_168932358del	GRCh38
NC_000002.11:g.169788862_169788868del , CM000664.1:g.169788862_169788868del	GRCh37
NC_000002.10:g.169497108_169497114del	NCBI36
NG_007374.1:g.103966_103972del
NG_007374.2:g.104039_104045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1530+19_1530+25del	ENSP00000497165.1:n.1530+19_1530+25del
ENST00000650372.1:c.3213+19_3213+25del MANE Select	ENSP00000497931.1:n.3213+19_3213+25del
ENST00000263817.6:c.3213+19_3213+25del	ENSP00000263817.6:n.3213+19_3213+25del
ENST00000439188.1:c.1902+19_1902+25del	ENSP00000416058.1:n.1902+19_1902+25del
NM_003742.2:c.3213+19_3213+25del	NP_003733.2:n.3213+19_3213+25del
XM_006712817.2:c.3255+19_3255+25del	XP_006712880.1:n.3255+19_3255+25del
XM_011512077.1:c.3315+19_3315+25del	XP_011510379.1:n.3315+19_3315+25del
XM_011512078.1:c.3315+19_3315+25del	XP_011510380.1:n.3315+19_3315+25del
XM_011512079.1:c.3315+19_3315+25del	XP_011510381.1:n.3315+19_3315+25del
XM_011512081.1:c.1539+19_1539+25del	XP_011510383.1:n.1539+19_1539+25del
NM_003742.4:c.3213+19_3213+25del MANE Select	NP_003733.2:n.3213+19_3213+25del
XM_006712817.3:c.3255+19_3255+25del	XP_006712880.1:n.3255+19_3255+25del
XM_011512077.2:c.3315+19_3315+25del	XP_011510379.1:n.3315+19_3315+25del
XM_011512078.2:c.3315+19_3315+25del	XP_011510380.1:n.3315+19_3315+25del
XM_011512081.2:c.1539+19_1539+25del	XP_011510383.1:n.1539+19_1539+25del
XM_017005165.1:c.3315+19_3315+25del	XP_016860654.1:n.3315+19_3315+25del
XM_017005166.1:c.2544+19_2544+25del	XP_016860655.1:n.2544+19_2544+25del
XM_017005167.1:c.1998+19_1998+25del	XP_016860656.1:n.1998+19_1998+25del