Canonical Allele Identifier: CA2658831111

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43875062-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875067del , CM000664.2:g.43875067del	GRCh38
NC_000002.11:g.44102206del , CM000664.1:g.44102206del	GRCh37
NC_000002.10:g.43955710del	NCBI36
NG_008884.1:g.41104del
NG_008884.2:g.48126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1489-79del MANE Select	ENSP00000272286.2:n.1489-79del
ENST00000272286.2:c.1489-79del	ENSP00000272286.2:n.1489-79del
NM_022437.2:c.1489-79del	NP_071882.1:n.1489-79del
XM_005264483.2:c.1486-79del	XP_005264540.1:n.1486-79del
XM_011533029.1:c.1501-79del	XP_011531331.1:n.1501-79del
XM_011533030.1:c.1498-79del	XP_011531332.1:n.1498-79del
XM_011533031.1:c.1273-79del	XP_011531333.1:n.1273-79del
XR_939707.1:n.1991-79del
NM_001357321.1:c.1486-79del	NP_001344250.1:n.1486-79del
XM_011533029.2:c.1501-79del	XP_011531331.1:n.1501-79del
XM_011533030.2:c.1498-79del	XP_011531332.1:n.1498-79del
XR_001738891.1:n.2005-79del
XR_939707.2:n.2005-79del
NM_022437.3:c.1489-79del MANE Select	NP_071882.1:n.1489-79del
NM_001357321.2:c.1486-79del	NP_001344250.1:n.1486-79del