Canonical Allele Identifier: CA2661805094

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944724-GCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944725_168944727del , CM000664.2:g.168944725_168944727del	GRCh38
NC_000002.11:g.169801235_169801237del , CM000664.1:g.169801235_169801237del	GRCh37
NC_000002.10:g.169509481_169509483del	NCBI36
NG_007374.1:g.91597_91599del
NG_007374.2:g.91670_91672del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.805_807del	ENSP00000497165.1:p.Arg269del
ENST00000650372.1:c.2488_2490del MANE Select	ENSP00000497931.1:p.Arg830del
ENST00000263817.6:c.2488_2490del	ENSP00000263817.6:p.Arg830del
ENST00000439188.1:c.1177_1179del	ENSP00000416058.1:n.1177_1179del
NM_003742.2:c.2488_2490del	NP_003733.2:p.Arg830del
XM_006712817.2:c.2530_2532del	XP_006712880.1:p.Arg844del
XM_011512077.1:c.2590_2592del	XP_011510379.1:p.Arg864del
XM_011512078.1:c.2590_2592del	XP_011510380.1:p.Arg864del
XM_011512079.1:c.2590_2592del	XP_011510381.1:p.Arg864del
XM_011512080.1:c.2590_2592del	XP_011510382.1:p.Arg864del
XM_011512081.1:c.814_816del	XP_011510383.1:p.Arg272del
NM_003742.4:c.2488_2490del MANE Select	NP_003733.2:p.Arg830del
XM_006712817.3:c.2530_2532del	XP_006712880.1:p.Arg844del
XM_011512077.2:c.2590_2592del	XP_011510379.1:p.Arg864del
XM_011512078.2:c.2590_2592del	XP_011510380.1:p.Arg864del
XM_011512080.2:c.2590_2592del	XP_011510382.1:p.Arg864del
XM_011512081.2:c.814_816del	XP_011510383.1:p.Arg272del
XM_017005165.1:c.2590_2592del	XP_016860654.1:p.Arg864del
XM_017005166.1:c.1819_1821del	XP_016860655.1:p.Arg607del
XM_017005167.1:c.1273_1275del	XP_016860656.1:p.Arg425del