Canonical Allele Identifier: CA2661802863

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168923251-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923251_168923252insA , CM000664.2:g.168923251_168923252insA	GRCh38
NC_000002.11:g.169779761_169779762insA , CM000664.1:g.169779761_169779762insA	GRCh37
NC_000002.10:g.169488007_169488008insA	NCBI36
NG_007374.1:g.113072_113073insT
NG_007374.2:g.113145_113146insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1405_226+1406insT
ENST00000649448.1:c.2713_2714insT	ENSP00000497165.1:n.2713_2714insT
ENST00000650372.1:c.*370_*371insT MANE Select	ENSP00000497931.1:n.*370_*371insT
ENST00000263817.6:c.*370_*371insT	ENSP00000263817.6:n.*370_*371insT
NM_003742.2:c.*370_*371insT	NP_003733.2:n.*370_*371insT
XM_006712817.2:c.*370_*371insT	XP_006712880.1:n.*370_*371insT
XM_011512077.1:c.*370_*371insT	XP_011510379.1:n.*370_*371insT
XM_011512078.1:c.*324_*325insT	XP_011510380.1:n.*324_*325insT
XM_011512079.1:c.*370_*371insT	XP_011510381.1:n.*370_*371insT
XM_011512081.1:c.*370_*371insT	XP_011510383.1:n.*370_*371insT
NM_003742.4:c.*370_*371insT MANE Select	NP_003733.2:n.*370_*371insT
XM_006712817.3:c.*370_*371insT	XP_006712880.1:n.*370_*371insT
XM_011512077.2:c.*370_*371insT	XP_011510379.1:n.*370_*371insT
XM_011512078.2:c.*324_*325insT	XP_011510380.1:n.*324_*325insT
XM_011512081.2:c.*370_*371insT	XP_011510383.1:n.*370_*371insT
XM_017005165.1:c.3867+1405_3867+1406insT	XP_016860654.1:n.3867+1405_3867+1406insT
XM_017005166.1:c.*370_*371insT	XP_016860655.1:n.*370_*371insT
XM_017005167.1:c.*370_*371insT	XP_016860656.1:n.*370_*371insT