Canonical Allele Identifier: CA2658831160
Gene: ABCG8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43875094_43875097del , CM000664.2:g.43875094_43875097del GRCh38
NC_000002.11:g.44102233_44102236del , CM000664.1:g.44102233_44102236del GRCh37
NC_000002.10:g.43955737_43955740del NCBI36
NG_008884.1:g.41131_41134del
NG_008884.2:g.48153_48156del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1489-52_1489-49del MANE Select ENSP00000272286.2:n.1489-52_1489-49del
ENST00000272286.2:c.1489-52_1489-49del ENSP00000272286.2:n.1489-52_1489-49del
NM_022437.2:c.1489-52_1489-49del NP_071882.1:n.1489-52_1489-49del
XM_005264483.2:c.1486-52_1486-49del XP_005264540.1:n.1486-52_1486-49del
XM_011533029.1:c.1501-52_1501-49del XP_011531331.1:n.1501-52_1501-49del
XM_011533030.1:c.1498-52_1498-49del XP_011531332.1:n.1498-52_1498-49del
XM_011533031.1:c.1273-52_1273-49del XP_011531333.1:n.1273-52_1273-49del
XR_939707.1:n.1991-52_1991-49del
NM_001357321.1:c.1486-52_1486-49del NP_001344250.1:n.1486-52_1486-49del
XM_011533029.2:c.1501-52_1501-49del XP_011531331.1:n.1501-52_1501-49del
XM_011533030.2:c.1498-52_1498-49del XP_011531332.1:n.1498-52_1498-49del
XR_001738891.1:n.2005-52_2005-49del
XR_939707.2:n.2005-52_2005-49del
NM_022437.3:c.1489-52_1489-49del MANE Select NP_071882.1:n.1489-52_1489-49del
NM_001357321.2:c.1486-52_1486-49del NP_001344250.1:n.1486-52_1486-49del