Canonical Allele Identifier: CA2661804845

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944510-TATTCCATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944511_168944518del , CM000664.2:g.168944511_168944518del	GRCh38
NC_000002.11:g.169801021_169801028del , CM000664.1:g.169801021_169801028del	GRCh37
NC_000002.10:g.169509267_169509274del	NCBI36
NG_007374.1:g.91806_91813del
NG_007374.2:g.91879_91886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.927+87_927+94del	ENSP00000497165.1:n.927+87_927+94del
ENST00000650372.1:c.2610+87_2610+94del MANE Select	ENSP00000497931.1:n.2610+87_2610+94del
ENST00000263817.6:c.2610+87_2610+94del	ENSP00000263817.6:n.2610+87_2610+94del
ENST00000439188.1:c.1299+87_1299+94del	ENSP00000416058.1:n.1299+87_1299+94del
NM_003742.2:c.2610+87_2610+94del	NP_003733.2:n.2610+87_2610+94del
XM_006712817.2:c.2652+87_2652+94del	XP_006712880.1:n.2652+87_2652+94del
XM_011512077.1:c.2712+87_2712+94del	XP_011510379.1:n.2712+87_2712+94del
XM_011512078.1:c.2712+87_2712+94del	XP_011510380.1:n.2712+87_2712+94del
XM_011512079.1:c.2712+87_2712+94del	XP_011510381.1:n.2712+87_2712+94del
XM_011512080.1:c.2712+87_2712+94del	XP_011510382.1:n.2712+87_2712+94del
XM_011512081.1:c.936+87_936+94del	XP_011510383.1:n.936+87_936+94del
NM_003742.4:c.2610+87_2610+94del MANE Select	NP_003733.2:n.2610+87_2610+94del
XM_006712817.3:c.2652+87_2652+94del	XP_006712880.1:n.2652+87_2652+94del
XM_011512077.2:c.2712+87_2712+94del	XP_011510379.1:n.2712+87_2712+94del
XM_011512078.2:c.2712+87_2712+94del	XP_011510380.1:n.2712+87_2712+94del
XM_011512080.2:c.2712+87_2712+94del	XP_011510382.1:n.2712+87_2712+94del
XM_011512081.2:c.936+87_936+94del	XP_011510383.1:n.936+87_936+94del
XM_017005165.1:c.2712+87_2712+94del	XP_016860654.1:n.2712+87_2712+94del
XM_017005166.1:c.1941+87_1941+94del	XP_016860655.1:n.1941+87_1941+94del
XM_017005167.1:c.1395+87_1395+94del	XP_016860656.1:n.1395+87_1395+94del