Canonical Allele Identifier: CA537971274

Gene: ABCB11

Linked Data

• dbSNP Id: rs1405623628
• gnomAD v2: 2-169801174-T-TGAG
• gnomAD v4: 2-168944664-T-TGAG
• MyVariant Identifiers: chr2:g.169801174_169801175insGAG (hg19) ; chr2:g.168944664_168944665insGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944666_168944668dup , CM000664.2:g.168944666_168944668dup	GRCh38
NC_000002.11:g.169801176_169801178dup , CM000664.1:g.169801176_169801178dup	GRCh37
NC_000002.10:g.169509422_169509424dup	NCBI36
NG_007374.1:g.91657_91659dup
NG_007374.2:g.91730_91732dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.865_867dup	ENSP00000497165.1:p.Leu289_Arg290insLeu
ENST00000650372.1:c.2548_2550dup MANE Select	ENSP00000497931.1:p.Leu850_Arg851insLeu
ENST00000263817.6:c.2548_2550dup	ENSP00000263817.6:p.Leu850_Arg851insLeu
ENST00000439188.1:c.1237_1239dup	ENSP00000416058.1:n.1237_1239dup
NM_003742.2:c.2548_2550dup	NP_003733.2:p.Leu850_Arg851insLeu
XM_006712817.2:c.2590_2592dup	XP_006712880.1:p.Leu864_Arg865insLeu
XM_011512077.1:c.2650_2652dup	XP_011510379.1:p.Leu884_Arg885insLeu
XM_011512078.1:c.2650_2652dup	XP_011510380.1:p.Leu884_Arg885insLeu
XM_011512079.1:c.2650_2652dup	XP_011510381.1:p.Leu884_Arg885insLeu
XM_011512080.1:c.2650_2652dup	XP_011510382.1:p.Leu884_Arg885insLeu
XM_011512081.1:c.874_876dup	XP_011510383.1:p.Leu292_Arg293insLeu
NM_003742.4:c.2548_2550dup MANE Select	NP_003733.2:p.Leu850_Arg851insLeu
XM_006712817.3:c.2590_2592dup	XP_006712880.1:p.Leu864_Arg865insLeu
XM_011512077.2:c.2650_2652dup	XP_011510379.1:p.Leu884_Arg885insLeu
XM_011512078.2:c.2650_2652dup	XP_011510380.1:p.Leu884_Arg885insLeu
XM_011512080.2:c.2650_2652dup	XP_011510382.1:p.Leu884_Arg885insLeu
XM_011512081.2:c.874_876dup	XP_011510383.1:p.Leu292_Arg293insLeu
XM_017005165.1:c.2650_2652dup	XP_016860654.1:p.Leu884_Arg885insLeu
XM_017005166.1:c.1879_1881dup	XP_016860655.1:p.Leu627_Arg628insLeu
XM_017005167.1:c.1333_1335dup	XP_016860656.1:p.Leu445_Arg446insLeu