Canonical Allele Identifier: CA1951082

Gene: ABCB11

Linked Data

• dbSNP Id: rs766775599
• ExAC: 2:169788873 ATTCCAACAC / A
• gnomAD v2: 2-169788873-ATTCCAACAC-A
• gnomAD v4: 2-168932363-ATTCCAACAC-A
• MyVariant Identifiers: chr2:g.169788874_169788882del (hg19) ; chr2:g.168932364_168932372del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932366_168932374del , CM000664.2:g.168932366_168932374del	GRCh38
NC_000002.11:g.169788876_169788884del , CM000664.1:g.169788876_169788884del	GRCh37
NC_000002.10:g.169497122_169497130del	NCBI36
NG_007374.1:g.103952_103960del
NG_007374.2:g.104025_104033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1530+5_1530+13del	ENSP00000497165.1:n.1530+5_1530+13del
ENST00000650372.1:c.3213+5_3213+13del MANE Select	ENSP00000497931.1:n.3213+5_3213+13del
ENST00000263817.6:c.3213+5_3213+13del	ENSP00000263817.6:n.3213+5_3213+13del
ENST00000439188.1:c.1902+5_1902+13del	ENSP00000416058.1:n.1902+5_1902+13del
NM_003742.2:c.3213+5_3213+13del	NP_003733.2:n.3213+5_3213+13del
XM_006712817.2:c.3255+5_3255+13del	XP_006712880.1:n.3255+5_3255+13del
XM_011512077.1:c.3315+5_3315+13del	XP_011510379.1:n.3315+5_3315+13del
XM_011512078.1:c.3315+5_3315+13del	XP_011510380.1:n.3315+5_3315+13del
XM_011512079.1:c.3315+5_3315+13del	XP_011510381.1:n.3315+5_3315+13del
XM_011512081.1:c.1539+5_1539+13del	XP_011510383.1:n.1539+5_1539+13del
NM_003742.4:c.3213+5_3213+13del MANE Select	NP_003733.2:n.3213+5_3213+13del
XM_006712817.3:c.3255+5_3255+13del	XP_006712880.1:n.3255+5_3255+13del
XM_011512077.2:c.3315+5_3315+13del	XP_011510379.1:n.3315+5_3315+13del
XM_011512078.2:c.3315+5_3315+13del	XP_011510380.1:n.3315+5_3315+13del
XM_011512081.2:c.1539+5_1539+13del	XP_011510383.1:n.1539+5_1539+13del
XM_017005165.1:c.3315+5_3315+13del	XP_016860654.1:n.3315+5_3315+13del
XM_017005166.1:c.2544+5_2544+13del	XP_016860655.1:n.2544+5_2544+13del
XM_017005167.1:c.1998+5_1998+13del	XP_016860656.1:n.1998+5_1998+13del