Canonical Allele Identifier: CA658657120
Gene: ABCB11 HGNC NCBI

Linked Data

ClinVar Variation Id: 6591
ClinVar RCV Id: RCV000006970
dbSNP Id: rs1553469602
MyVariant Identifiers: chr2:g.169847311del (hg19) chr2:g.168990801del (hg38)
PubMed: PMID:9806540
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168990801del , CM000664.2:g.168990801del GRCh38
NC_000002.11:g.169847311del , CM000664.1:g.169847311del GRCh37
NC_000002.10:g.169555557del NCBI36
NG_007374.1:g.45524del
NG_007374.2:g.45597del

Transcript Alleles

HGVS Amino-acid change
ENST00000650372.1:c.908+1del
ENST00000263817.6:c.908+1del
NM_003742.2:c.908+1del
XM_006712817.2:c.950+1del
XM_011512077.1:c.1010+1del
XM_011512078.1:c.1010+1del
XM_011512079.1:c.1010+1del
XM_011512080.1:c.1010+1del
NM_003742.4:c.908+1del
XM_006712817.3:c.950+1del
XM_011512077.2:c.1010+1del
XM_011512078.2:c.1010+1del
XM_011512080.2:c.1010+1del
XM_017005165.1:c.1010+1del
XM_017005166.1:c.239+1del
Search 100 bp 5'
Search 100 bp 3'