Canonical Allele Identifier: CA2586969037

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43875177-ACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875185_43875187del , CM000664.2:g.43875185_43875187del	GRCh38
NC_000002.11:g.44102324_44102326del , CM000664.1:g.44102324_44102326del	GRCh37
NC_000002.10:g.43955828_43955830del	NCBI36
NG_008884.1:g.41222_41224del
NG_008884.2:g.48244_48246del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1528_1530del MANE Select	ENSP00000272286.2:p.Ile510del
ENST00000272286.2:c.1528_1530del	ENSP00000272286.2:p.Ile510del
NM_022437.2:c.1528_1530del	NP_071882.1:p.Ile510del
XM_005264483.2:c.1525_1527del	XP_005264540.1:p.Ile509del
XM_011533029.1:c.1540_1542del	XP_011531331.1:p.Ile514del
XM_011533030.1:c.1537_1539del	XP_011531332.1:p.Ile513del
XM_011533031.1:c.1312_1314del	XP_011531333.1:p.Ile438del
XR_939707.1:n.2030_2032del
NM_001357321.1:c.1525_1527del	NP_001344250.1:p.Ile509del
XM_011533029.2:c.1540_1542del	XP_011531331.1:p.Ile514del
XM_011533030.2:c.1537_1539del	XP_011531332.1:p.Ile513del
XR_001738891.1:n.2044_2046del
XR_939707.2:n.2044_2046del
NM_022437.3:c.1528_1530del MANE Select	NP_071882.1:p.Ile510del
NM_001357321.2:c.1525_1527del	NP_001344250.1:p.Ile509del