Canonical Allele Identifier: CA537971462

Gene: ABCB11

Linked Data

• dbSNP Id: rs1163813362
• gnomAD v2: 2-169788870-AG-A
• gnomAD v4: 2-168932360-AG-A
• MyVariant Identifiers: chr2:g.169788871del (hg19) ; chr2:g.168932361del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168932361del , CM000664.2:g.168932361del	GRCh38
NC_000002.11:g.169788871del , CM000664.1:g.169788871del	GRCh37
NC_000002.10:g.169497117del	NCBI36
NG_007374.1:g.103963del
NG_007374.2:g.104036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1530+16del	ENSP00000497165.1:n.1530+16del
ENST00000650372.1:c.3213+16del MANE Select	ENSP00000497931.1:n.3213+16del
ENST00000263817.6:c.3213+16del	ENSP00000263817.6:n.3213+16del
ENST00000439188.1:c.1902+16del	ENSP00000416058.1:n.1902+16del
NM_003742.2:c.3213+16del	NP_003733.2:n.3213+16del
XM_006712817.2:c.3255+16del	XP_006712880.1:n.3255+16del
XM_011512077.1:c.3315+16del	XP_011510379.1:n.3315+16del
XM_011512078.1:c.3315+16del	XP_011510380.1:n.3315+16del
XM_011512079.1:c.3315+16del	XP_011510381.1:n.3315+16del
XM_011512081.1:c.1539+16del	XP_011510383.1:n.1539+16del
NM_003742.4:c.3213+16del MANE Select	NP_003733.2:n.3213+16del
XM_006712817.3:c.3255+16del	XP_006712880.1:n.3255+16del
XM_011512077.2:c.3315+16del	XP_011510379.1:n.3315+16del
XM_011512078.2:c.3315+16del	XP_011510380.1:n.3315+16del
XM_011512081.2:c.1539+16del	XP_011510383.1:n.1539+16del
XM_017005165.1:c.3315+16del	XP_016860654.1:n.3315+16del
XM_017005166.1:c.2544+16del	XP_016860655.1:n.2544+16del
XM_017005167.1:c.1998+16del	XP_016860656.1:n.1998+16del