Canonical Allele Identifier: CA2661805178

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944898-CAAAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944899_168944904del , CM000664.2:g.168944899_168944904del	GRCh38
NC_000002.11:g.169801409_169801414del , CM000664.1:g.169801409_169801414del	GRCh37
NC_000002.10:g.169509655_169509660del	NCBI36
NG_007374.1:g.91420_91425del
NG_007374.2:g.91493_91498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.718_723del	ENSP00000497165.1:p.Leu240_Phe241del
ENST00000650372.1:c.2401_2406del MANE Select	ENSP00000497931.1:p.Leu801_Phe802del
ENST00000263817.6:c.2401_2406del	ENSP00000263817.6:p.Leu801_Phe802del
ENST00000439188.1:c.1090_1095del	ENSP00000416058.1:n.1090_1095del
NM_003742.2:c.2401_2406del	NP_003733.2:p.Leu801_Phe802del
XM_006712817.2:c.2443_2448del	XP_006712880.1:p.Leu815_Phe816del
XM_011512077.1:c.2503_2508del	XP_011510379.1:p.Leu835_Phe836del
XM_011512078.1:c.2503_2508del	XP_011510380.1:p.Leu835_Phe836del
XM_011512079.1:c.2503_2508del	XP_011510381.1:p.Leu835_Phe836del
XM_011512080.1:c.2503_2508del	XP_011510382.1:p.Leu835_Phe836del
XM_011512081.1:c.727_732del	XP_011510383.1:p.Leu243_Phe244del
NM_003742.4:c.2401_2406del MANE Select	NP_003733.2:p.Leu801_Phe802del
XM_006712817.3:c.2443_2448del	XP_006712880.1:p.Leu815_Phe816del
XM_011512077.2:c.2503_2508del	XP_011510379.1:p.Leu835_Phe836del
XM_011512078.2:c.2503_2508del	XP_011510380.1:p.Leu835_Phe836del
XM_011512080.2:c.2503_2508del	XP_011510382.1:p.Leu835_Phe836del
XM_011512081.2:c.727_732del	XP_011510383.1:p.Leu243_Phe244del
XM_017005165.1:c.2503_2508del	XP_016860654.1:p.Leu835_Phe836del
XM_017005166.1:c.1732_1737del	XP_016860655.1:p.Leu578_Phe579del
XM_017005167.1:c.1186_1191del	XP_016860656.1:p.Leu396_Phe397del