Canonical Allele Identifier: CA760446611

Gene: ABCB11

Linked Data

• dbSNP Id: rs1263795824
• MyVariant Identifiers: chr2:g.169784453_169784456del (hg19) ; chr2:g.168927943_168927946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168927943_168927946del , CM000664.2:g.168927943_168927946del	GRCh38
NC_000002.11:g.169784453_169784456del , CM000664.1:g.169784453_169784456del	GRCh37
NC_000002.10:g.169492699_169492702del	NCBI36
NG_007374.1:g.108378_108381del
NG_007374.2:g.108451_108454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1789-584_1789-581del	ENSP00000497165.1:n.1789-584_1789-581del
ENST00000650372.1:c.3412-584_3412-581del MANE Select	ENSP00000497931.1:n.3412-584_3412-581del
ENST00000263817.6:c.3412-584_3412-581del	ENSP00000263817.6:n.3412-584_3412-581del
ENST00000439188.1:c.2101-656_2101-653del	ENSP00000416058.1:n.2101-656_2101-653del
NM_003742.2:c.3412-584_3412-581del	NP_003733.2:n.3412-584_3412-581del
XM_006712817.2:c.3454-584_3454-581del	XP_006712880.1:n.3454-584_3454-581del
XM_011512077.1:c.3514-584_3514-581del	XP_011510379.1:n.3514-584_3514-581del
XM_011512078.1:c.3514-584_3514-581del	XP_011510380.1:n.3514-584_3514-581del
XM_011512079.1:c.3514-584_3514-581del	XP_011510381.1:n.3514-584_3514-581del
XM_011512081.1:c.1738-584_1738-581del	XP_011510383.1:n.1738-584_1738-581del
NM_003742.4:c.3412-584_3412-581del MANE Select	NP_003733.2:n.3412-584_3412-581del
XM_006712817.3:c.3454-584_3454-581del	XP_006712880.1:n.3454-584_3454-581del
XM_011512077.2:c.3514-584_3514-581del	XP_011510379.1:n.3514-584_3514-581del
XM_011512078.2:c.3514-584_3514-581del	XP_011510380.1:n.3514-584_3514-581del
XM_011512081.2:c.1738-584_1738-581del	XP_011510383.1:n.1738-584_1738-581del
XM_017005165.1:c.3514-584_3514-581del	XP_016860654.1:n.3514-584_3514-581del
XM_017005166.1:c.2743-584_2743-581del	XP_016860655.1:n.2743-584_2743-581del
XM_017005167.1:c.2197-584_2197-581del	XP_016860656.1:n.2197-584_2197-581del