Canonical Allele Identifier: CA1306213491

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944657_168944684delinsCTATTTCTGAGGTCATCAAACCAGGCAA , CM000664.2:g.168944657_168944684delinsCTATTTCTGAGGTCATCAAACCAGGCAA	GRCh38
NC_000002.11:g.169801167_169801194delinsCTATTTCTGAGGTCATCAAACCAGGCAA , CM000664.1:g.169801167_169801194delinsCTATTTCTGAGGTCATCAAACCAGGCAA	GRCh37
NC_000002.10:g.169509413_169509440delinsCTATTTCTGAGGTCATCAAACCAGGCAA	NCBI36
NG_007374.1:g.91640_91667delinsTTGCCTGGTTTGATGACCTCAGAAATAG
NG_007374.2:g.91713_91740delinsTTGCCTGGTTTGATGACCTCAGAAATAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.848_875delinsTTGCCTGGTTTGATGACCTCAGAAATAG	ENSP00000497165.1:p.Ile283=
ENST00000650372.1:c.2531_2558delinsTTGCCTGGTTTGATGACCTCAGAAATAG MANE Select	ENSP00000497931.1:p.Ile844=
ENST00000263817.6:c.2531_2558delinsTTGCCTGGTTTGATGACCTCAGAAATAG	ENSP00000263817.6:p.Ile844=
ENST00000439188.1:c.1220_1247delinsTTGCCTGGTTTGATGACCTCAGAAATAG	ENSP00000416058.1:n.1220_1247delinsTTGCCTGGTTTGATGACCTCAGAAAT...
NM_003742.2:c.2531_2558delinsTTGCCTGGTTTGATGACCTCAGAAATAG	NP_003733.2:p.Ile844=
XM_006712817.2:c.2573_2600delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_006712880.1:p.Ile858=
XM_011512077.1:c.2633_2660delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_011510379.1:p.Ile878=
XM_011512078.1:c.2633_2660delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_011510380.1:p.Ile878=
XM_011512079.1:c.2633_2660delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_011510381.1:p.Ile878=
XM_011512080.1:c.2633_2660delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_011510382.1:p.Ile878=
XM_011512081.1:c.857_884delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_011510383.1:p.Ile286=
NM_003742.4:c.2531_2558delinsTTGCCTGGTTTGATGACCTCAGAAATAG MANE Select	NP_003733.2:p.Ile844=
XM_006712817.3:c.2573_2600delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_006712880.1:p.Ile858=
XM_011512077.2:c.2633_2660delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_011510379.1:p.Ile878=
XM_011512078.2:c.2633_2660delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_011510380.1:p.Ile878=
XM_011512080.2:c.2633_2660delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_011510382.1:p.Ile878=
XM_011512081.2:c.857_884delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_011510383.1:p.Ile286=
XM_017005165.1:c.2633_2660delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_016860654.1:p.Ile878=
XM_017005166.1:c.1862_1889delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_016860655.1:p.Ile621=
XM_017005167.1:c.1316_1343delinsTTGCCTGGTTTGATGACCTCAGAAATAG	XP_016860656.1:p.Ile439=