Canonical Allele Identifier: CA2661802831

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168923244-CAGTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923245_168923250del , CM000664.2:g.168923245_168923250del	GRCh38
NC_000002.11:g.169779755_169779760del , CM000664.1:g.169779755_169779760del	GRCh37
NC_000002.10:g.169488001_169488006del	NCBI36
NG_007374.1:g.113074_113079del
NG_007374.2:g.113147_113152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1407_226+1412del
ENST00000649448.1:c.2715_2720del	ENSP00000497165.1:n.2715_2720del
ENST00000650372.1:c.*372_*377del MANE Select	ENSP00000497931.1:n.*372_*377del
ENST00000263817.6:c.*372_*377del	ENSP00000263817.6:n.*372_*377del
NM_003742.2:c.*372_*377del	NP_003733.2:n.*372_*377del
XM_006712817.2:c.*372_*377del	XP_006712880.1:n.*372_*377del
XM_011512077.1:c.*372_*377del	XP_011510379.1:n.*372_*377del
XM_011512078.1:c.*326_*331del	XP_011510380.1:n.*326_*331del
XM_011512079.1:c.*372_*377del	XP_011510381.1:n.*372_*377del
XM_011512081.1:c.*372_*377del	XP_011510383.1:n.*372_*377del
NM_003742.4:c.*372_*377del MANE Select	NP_003733.2:n.*372_*377del
XM_006712817.3:c.*372_*377del	XP_006712880.1:n.*372_*377del
XM_011512077.2:c.*372_*377del	XP_011510379.1:n.*372_*377del
XM_011512078.2:c.*326_*331del	XP_011510380.1:n.*326_*331del
XM_011512081.2:c.*372_*377del	XP_011510383.1:n.*372_*377del
XM_017005165.1:c.3867+1407_3867+1412del	XP_016860654.1:n.3867+1407_3867+1412del
XM_017005166.1:c.*372_*377del	XP_016860655.1:n.*372_*377del
XM_017005167.1:c.*372_*377del	XP_016860656.1:n.*372_*377del