Canonical Allele Identifier: CA2753093885

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923290_168923291insCCCC , CM000664.2:g.168923290_168923291insCCCC	GRCh38
NC_000002.11:g.169779800_169779801insCCCC , CM000664.1:g.169779800_169779801insCCCC	GRCh37
NC_000002.10:g.169488046_169488047insCCCC	NCBI36
NG_007374.1:g.113033_113034insGGGG
NG_007374.2:g.113106_113107insGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1366_226+1367insGGGG
ENST00000649448.1:c.2674_2675insGGGG	ENSP00000497165.1:n.2674_2675insGGGG
ENST00000650372.1:c.*331_*332insGGGG MANE Select	ENSP00000497931.1:n.*331_*332insGGGG
ENST00000263817.6:c.*331_*332insGGGG	ENSP00000263817.6:n.*331_*332insGGGG
NM_003742.2:c.*331_*332insGGGG	NP_003733.2:n.*331_*332insGGGG
XM_006712817.2:c.*331_*332insGGGG	XP_006712880.1:n.*331_*332insGGGG
XM_011512077.1:c.*331_*332insGGGG	XP_011510379.1:n.*331_*332insGGGG
XM_011512078.1:c.*285_*286insGGGG	XP_011510380.1:n.*285_*286insGGGG
XM_011512079.1:c.*331_*332insGGGG	XP_011510381.1:n.*331_*332insGGGG
XM_011512081.1:c.*331_*332insGGGG	XP_011510383.1:n.*331_*332insGGGG
NM_003742.4:c.*331_*332insGGGG MANE Select	NP_003733.2:n.*331_*332insGGGG
XM_006712817.3:c.*331_*332insGGGG	XP_006712880.1:n.*331_*332insGGGG
XM_011512077.2:c.*331_*332insGGGG	XP_011510379.1:n.*331_*332insGGGG
XM_011512078.2:c.*285_*286insGGGG	XP_011510380.1:n.*285_*286insGGGG
XM_011512081.2:c.*331_*332insGGGG	XP_011510383.1:n.*331_*332insGGGG
XM_017005165.1:c.3867+1366_3867+1367insGGGG	XP_016860654.1:n.3867+1366_3867+1367insGGGG
XM_017005166.1:c.*331_*332insGGGG	XP_016860655.1:n.*331_*332insGGGG
XM_017005167.1:c.*331_*332insGGGG	XP_016860656.1:n.*331_*332insGGGG