Canonical Allele Identifier: CA1139657335

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 965313
• ClinVar RCV Id: RCV001239731
• dbSNP Id: rs1692230196

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944857_168944862delinsTAAATCACTTACTGAA , CM000664.2:g.168944857_168944862delinsTAAATCACTTACTGAA	GRCh38
NC_000002.11:g.169801367_169801372delinsTAAATCACTTACTGAA , CM000664.1:g.169801367_169801372delinsTAAATCACTTACTGAA	GRCh37
NC_000002.10:g.169509613_169509618delinsTAAATCACTTACTGAA	NCBI36
NG_007374.1:g.91462_91467delinsTTCAGTAAGTGATTTA
NG_007374.2:g.91535_91540delinsTTCAGTAAGTGATTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.760_765delinsTTCAGTAAGTGATTTA	ENSP00000497165.1:p.Leu254PhefsTer4
ENST00000650372.1:c.2443_2448delinsTTCAGTAAGTGATTTA MANE Select	ENSP00000497931.1:p.Leu815PhefsTer4
ENST00000263817.6:c.2443_2448delinsTTCAGTAAGTGATTTA	ENSP00000263817.6:p.Leu815PhefsTer4
ENST00000439188.1:c.1132_1137delinsTTCAGTAAGTGATTTA	ENSP00000416058.1:n.1132_1137delinsTTCAGTAAGTGATTTA
NM_003742.2:c.2443_2448delinsTTCAGTAAGTGATTTA	NP_003733.2:p.Leu815PhefsTer4
XM_006712817.2:c.2485_2490delinsTTCAGTAAGTGATTTA	XP_006712880.1:p.Leu829PhefsTer4
XM_011512077.1:c.2545_2550delinsTTCAGTAAGTGATTTA	XP_011510379.1:p.Leu849PhefsTer4
XM_011512078.1:c.2545_2550delinsTTCAGTAAGTGATTTA	XP_011510380.1:p.Leu849PhefsTer4
XM_011512079.1:c.2545_2550delinsTTCAGTAAGTGATTTA	XP_011510381.1:p.Leu849PhefsTer4
XM_011512080.1:c.2545_2550delinsTTCAGTAAGTGATTTA	XP_011510382.1:p.Leu849PhefsTer4
XM_011512081.1:c.769_774delinsTTCAGTAAGTGATTTA	XP_011510383.1:p.Leu257PhefsTer4
NM_003742.4:c.2443_2448delinsTTCAGTAAGTGATTTA MANE Select	NP_003733.2:p.Leu815PhefsTer4
XM_006712817.3:c.2485_2490delinsTTCAGTAAGTGATTTA	XP_006712880.1:p.Leu829PhefsTer4
XM_011512077.2:c.2545_2550delinsTTCAGTAAGTGATTTA	XP_011510379.1:p.Leu849PhefsTer4
XM_011512078.2:c.2545_2550delinsTTCAGTAAGTGATTTA	XP_011510380.1:p.Leu849PhefsTer4
XM_011512080.2:c.2545_2550delinsTTCAGTAAGTGATTTA	XP_011510382.1:p.Leu849PhefsTer4
XM_011512081.2:c.769_774delinsTTCAGTAAGTGATTTA	XP_011510383.1:p.Leu257PhefsTer4
XM_017005165.1:c.2545_2550delinsTTCAGTAAGTGATTTA	XP_016860654.1:p.Leu849PhefsTer4
XM_017005166.1:c.1774_1779delinsTTCAGTAAGTGATTTA	XP_016860655.1:p.Leu592PhefsTer4
XM_017005167.1:c.1228_1233delinsTTCAGTAAGTGATTTA	XP_016860656.1:p.Leu410PhefsTer4