Canonical Allele Identifier: CA2661802376

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168922954-A-ATCCGCGTTCTGGATGGTGGACAAGCGATGGGCAATGACAATG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168922954_168922955insTCCGCGTTCTGGATGGTGGACAAGCGATGGGCAATGACAATG , CM000664.2:g.168922954_168922955insTCCGCGTTCTGGATGGTGGACAAGCGATGGGCAATGACAATG	GRCh38
NC_000002.11:g.169779464_169779465insTCCGCGTTCTGGATGGTGGACAAGCGATGGGCAATGACAATG , CM000664.1:g.169779464_169779465insTCCGCGTTCTGGATGGTGGACAAGCGATGGGCAATGACAATG	GRCh37
NC_000002.10:g.169487710_169487711insTCCGCGTTCTGGATGGTGGACAAGCGATGGGCAATGACAATG	NCBI36
NG_007374.1:g.113369_113370insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA
NG_007374.2:g.113442_113443insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1702_226+1703insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA
ENST00000650372.1:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA MANE Select	ENSP00000497931.1:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCA...
ENST00000263817.6:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	ENSP00000263817.6:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCA...
NM_003742.2:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	NP_003733.2:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGA...
XM_006712817.2:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_006712880.1:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCC...
XM_011512077.1:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_011510379.1:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCC...
XM_011512078.1:c.*621_*622insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_011510380.1:n.*621_*622insCATTGTCATTGCCCATCGCTTGTCCACCATCC...
XM_011512079.1:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_011510381.1:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCC...
XM_011512081.1:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_011510383.1:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCC...
NM_003742.4:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA MANE Select	NP_003733.2:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGA...
XM_006712817.3:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_006712880.1:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCC...
XM_011512077.2:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_011510379.1:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCC...
XM_011512078.2:c.*621_*622insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_011510380.1:n.*621_*622insCATTGTCATTGCCCATCGCTTGTCCACCATCC...
XM_011512081.2:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_011510383.1:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCC...
XM_017005165.1:c.3867+1702_3867+1703insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_016860654.1:n.3867+1702_3867+1703insCATTGTCATTGCCCATCGCTTG...
XM_017005166.1:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_016860655.1:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCC...
XM_017005167.1:c.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCCAGAACGCGGA	XP_016860656.1:n.*667_*668insCATTGTCATTGCCCATCGCTTGTCCACCATCC...