Canonical Allele Identifier: CA769056768
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs1334551433

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43839008del , CM000664.2:g.43839008del GRCh38
NC_000002.11:g.44066147del , CM000664.1:g.44066147del GRCh37
NC_000002.10:g.43919651del NCBI36
NG_008883.1:g.4812del
NG_008884.1:g.5045del
NG_008884.2:g.12067del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.-46del MANE Select ENSP00000272286.2:n.-46del
ENST00000643284.1:n.521-5499del
ENST00000644611.1:c.76-5499del ENSP00000495423.1:n.76-5499del
ENST00000272286.2:c.-46del ENSP00000272286.2:n.-46del
NM_022437.2:c.-46del NP_071882.1:n.-46del
XM_005264483.2:c.-46del XP_005264540.1:n.-46del
XM_011533029.1:c.76-5499del XP_011531331.1:n.76-5499del
XM_011533030.1:c.76-5499del XP_011531332.1:n.76-5499del
XM_011533031.1:c.-153-5499del XP_011531333.1:n.-153-5499del
XR_939707.1:n.566-5499del
NM_001357321.1:c.-46del NP_001344250.1:n.-46del
XM_011533029.2:c.76-5499del XP_011531331.1:n.76-5499del
XM_011533030.2:c.76-5499del XP_011531332.1:n.76-5499del
XR_001738891.1:n.580-5499del
XR_939707.2:n.580-5499del
NM_022437.3:c.-46del MANE Select NP_071882.1:n.-46del
NM_001357321.2:c.-46del NP_001344250.1:n.-46del