Canonical Allele Identifier: CA2661805346

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168945004-GAAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168945006_168945009del , CM000664.2:g.168945006_168945009del	GRCh38
NC_000002.11:g.169801516_169801519del , CM000664.1:g.169801516_169801519del	GRCh37
NC_000002.10:g.169509762_169509765del	NCBI36
NG_007374.1:g.91316_91319del
NG_007374.2:g.91389_91392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.661-47_661-44del	ENSP00000497165.1:n.661-47_661-44del
ENST00000650372.1:c.2344-47_2344-44del MANE Select	ENSP00000497931.1:n.2344-47_2344-44del
ENST00000263817.6:c.2344-47_2344-44del	ENSP00000263817.6:n.2344-47_2344-44del
ENST00000439188.1:c.1033-47_1033-44del	ENSP00000416058.1:n.1033-47_1033-44del
NM_003742.2:c.2344-47_2344-44del	NP_003733.2:n.2344-47_2344-44del
XM_006712817.2:c.2386-47_2386-44del	XP_006712880.1:n.2386-47_2386-44del
XM_011512077.1:c.2446-47_2446-44del	XP_011510379.1:n.2446-47_2446-44del
XM_011512078.1:c.2446-47_2446-44del	XP_011510380.1:n.2446-47_2446-44del
XM_011512079.1:c.2446-47_2446-44del	XP_011510381.1:n.2446-47_2446-44del
XM_011512080.1:c.2446-47_2446-44del	XP_011510382.1:n.2446-47_2446-44del
XM_011512081.1:c.670-47_670-44del	XP_011510383.1:n.670-47_670-44del
NM_003742.4:c.2344-47_2344-44del MANE Select	NP_003733.2:n.2344-47_2344-44del
XM_006712817.3:c.2386-47_2386-44del	XP_006712880.1:n.2386-47_2386-44del
XM_011512077.2:c.2446-47_2446-44del	XP_011510379.1:n.2446-47_2446-44del
XM_011512078.2:c.2446-47_2446-44del	XP_011510380.1:n.2446-47_2446-44del
XM_011512080.2:c.2446-47_2446-44del	XP_011510382.1:n.2446-47_2446-44del
XM_011512081.2:c.670-47_670-44del	XP_011510383.1:n.670-47_670-44del
XM_017005165.1:c.2446-47_2446-44del	XP_016860654.1:n.2446-47_2446-44del
XM_017005166.1:c.1675-47_1675-44del	XP_016860655.1:n.1675-47_1675-44del
XM_017005167.1:c.1129-47_1129-44del	XP_016860656.1:n.1129-47_1129-44del