Canonical Allele Identifier: CA1306207428

Gene: ABCB11

Linked Data

• dbSNP Id: rs1692233465

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944942_168944943insCATG , CM000664.2:g.168944942_168944943insCATG	GRCh38
NC_000002.11:g.169801452_169801453insCATG , CM000664.1:g.169801452_169801453insCATG	GRCh37
NC_000002.10:g.169509698_169509699insCATG	NCBI36
NG_007374.1:g.91381_91382insCATG
NG_007374.2:g.91454_91455insCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.679_680insCATG	ENSP00000497165.1:p.Lys227ThrfsTer2
ENST00000650372.1:c.2362_2363insCATG MANE Select	ENSP00000497931.1:p.Lys788ThrfsTer2
ENST00000263817.6:c.2362_2363insCATG	ENSP00000263817.6:p.Lys788ThrfsTer2
ENST00000439188.1:c.1051_1052insCATG	ENSP00000416058.1:n.1051_1052insCATG
NM_003742.2:c.2362_2363insCATG	NP_003733.2:p.Lys788ThrfsTer2
XM_006712817.2:c.2404_2405insCATG	XP_006712880.1:p.Lys802ThrfsTer2
XM_011512077.1:c.2464_2465insCATG	XP_011510379.1:p.Lys822ThrfsTer2
XM_011512078.1:c.2464_2465insCATG	XP_011510380.1:p.Lys822ThrfsTer2
XM_011512079.1:c.2464_2465insCATG	XP_011510381.1:p.Lys822ThrfsTer2
XM_011512080.1:c.2464_2465insCATG	XP_011510382.1:p.Lys822ThrfsTer2
XM_011512081.1:c.688_689insCATG	XP_011510383.1:p.Lys230ThrfsTer2
NM_003742.4:c.2362_2363insCATG MANE Select	NP_003733.2:p.Lys788ThrfsTer2
XM_006712817.3:c.2404_2405insCATG	XP_006712880.1:p.Lys802ThrfsTer2
XM_011512077.2:c.2464_2465insCATG	XP_011510379.1:p.Lys822ThrfsTer2
XM_011512078.2:c.2464_2465insCATG	XP_011510380.1:p.Lys822ThrfsTer2
XM_011512080.2:c.2464_2465insCATG	XP_011510382.1:p.Lys822ThrfsTer2
XM_011512081.2:c.688_689insCATG	XP_011510383.1:p.Lys230ThrfsTer2
XM_017005165.1:c.2464_2465insCATG	XP_016860654.1:p.Lys822ThrfsTer2
XM_017005166.1:c.1693_1694insCATG	XP_016860655.1:p.Lys565ThrfsTer2
XM_017005167.1:c.1147_1148insCATG	XP_016860656.1:p.Lys383ThrfsTer2