Canonical Allele Identifier: CA2661802882

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168923254-C-CAACCCCAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923254_168923255insAACCCCAAT , CM000664.2:g.168923254_168923255insAACCCCAAT	GRCh38
NC_000002.11:g.169779764_169779765insAACCCCAAT , CM000664.1:g.169779764_169779765insAACCCCAAT	GRCh37
NC_000002.10:g.169488010_169488011insAACCCCAAT	NCBI36
NG_007374.1:g.113069_113070insATTGGGGTT
NG_007374.2:g.113142_113143insATTGGGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1402_226+1403insATTGGGGTT
ENST00000649448.1:c.2710_2711insATTGGGGTT	ENSP00000497165.1:n.2710_2711insATTGGGGTT
ENST00000650372.1:c.*367_*368insATTGGGGTT MANE Select	ENSP00000497931.1:n.*367_*368insATTGGGGTT
ENST00000263817.6:c.*367_*368insATTGGGGTT	ENSP00000263817.6:n.*367_*368insATTGGGGTT
NM_003742.2:c.*367_*368insATTGGGGTT	NP_003733.2:n.*367_*368insATTGGGGTT
XM_006712817.2:c.*367_*368insATTGGGGTT	XP_006712880.1:n.*367_*368insATTGGGGTT
XM_011512077.1:c.*367_*368insATTGGGGTT	XP_011510379.1:n.*367_*368insATTGGGGTT
XM_011512078.1:c.*321_*322insATTGGGGTT	XP_011510380.1:n.*321_*322insATTGGGGTT
XM_011512079.1:c.*367_*368insATTGGGGTT	XP_011510381.1:n.*367_*368insATTGGGGTT
XM_011512081.1:c.*367_*368insATTGGGGTT	XP_011510383.1:n.*367_*368insATTGGGGTT
NM_003742.4:c.*367_*368insATTGGGGTT MANE Select	NP_003733.2:n.*367_*368insATTGGGGTT
XM_006712817.3:c.*367_*368insATTGGGGTT	XP_006712880.1:n.*367_*368insATTGGGGTT
XM_011512077.2:c.*367_*368insATTGGGGTT	XP_011510379.1:n.*367_*368insATTGGGGTT
XM_011512078.2:c.*321_*322insATTGGGGTT	XP_011510380.1:n.*321_*322insATTGGGGTT
XM_011512081.2:c.*367_*368insATTGGGGTT	XP_011510383.1:n.*367_*368insATTGGGGTT
XM_017005165.1:c.3867+1402_3867+1403insATTGGGGTT	XP_016860654.1:n.3867+1402_3867+1403insATTGGGGTT
XM_017005166.1:c.*367_*368insATTGGGGTT	XP_016860655.1:n.*367_*368insATTGGGGTT
XM_017005167.1:c.*367_*368insATTGGGGTT	XP_016860656.1:n.*367_*368insATTGGGGTT