Canonical Allele Identifier: CA2753093883

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923285_168923287del , CM000664.2:g.168923285_168923287del	GRCh38
NC_000002.11:g.169779795_169779797del , CM000664.1:g.169779795_169779797del	GRCh37
NC_000002.10:g.169488041_169488043del	NCBI36
NG_007374.1:g.113037_113039del
NG_007374.2:g.113110_113112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1370_226+1372del
ENST00000649448.1:c.2678_2680del	ENSP00000497165.1:n.2678_2680del
ENST00000650372.1:c.*335_*337del MANE Select	ENSP00000497931.1:n.*335_*337del
ENST00000263817.6:c.*335_*337del	ENSP00000263817.6:n.*335_*337del
NM_003742.2:c.*335_*337del	NP_003733.2:n.*335_*337del
XM_006712817.2:c.*335_*337del	XP_006712880.1:n.*335_*337del
XM_011512077.1:c.*335_*337del	XP_011510379.1:n.*335_*337del
XM_011512078.1:c.*289_*291del	XP_011510380.1:n.*289_*291del
XM_011512079.1:c.*335_*337del	XP_011510381.1:n.*335_*337del
XM_011512081.1:c.*335_*337del	XP_011510383.1:n.*335_*337del
NM_003742.4:c.*335_*337del MANE Select	NP_003733.2:n.*335_*337del
XM_006712817.3:c.*335_*337del	XP_006712880.1:n.*335_*337del
XM_011512077.2:c.*335_*337del	XP_011510379.1:n.*335_*337del
XM_011512078.2:c.*289_*291del	XP_011510380.1:n.*289_*291del
XM_011512081.2:c.*335_*337del	XP_011510383.1:n.*335_*337del
XM_017005165.1:c.3867+1370_3867+1372del	XP_016860654.1:n.3867+1370_3867+1372del
XM_017005166.1:c.*335_*337del	XP_016860655.1:n.*335_*337del
XM_017005167.1:c.*335_*337del	XP_016860656.1:n.*335_*337del