Canonical Allele Identifier: CA2658831271

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43875336-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875341_43875343del , CM000664.2:g.43875341_43875343del	GRCh38
NC_000002.11:g.44102480_44102482del , CM000664.1:g.44102480_44102482del	GRCh37
NC_000002.10:g.43955984_43955986del	NCBI36
NG_008884.1:g.41378_41380del
NG_008884.2:g.48400_48402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1684_1686del MANE Select	ENSP00000272286.2:p.Phe562del
ENST00000272286.2:c.1684_1686del	ENSP00000272286.2:p.Phe562del
NM_022437.2:c.1684_1686del	NP_071882.1:p.Phe562del
XM_005264483.2:c.1681_1683del	XP_005264540.1:p.Phe561del
XM_011533029.1:c.1696_1698del	XP_011531331.1:p.Phe566del
XM_011533030.1:c.1693_1695del	XP_011531332.1:p.Phe565del
XM_011533031.1:c.1468_1470del	XP_011531333.1:p.Phe490del
XR_939707.1:n.2186_2188del
NM_001357321.1:c.1681_1683del	NP_001344250.1:p.Phe561del
XM_011533029.2:c.1696_1698del	XP_011531331.1:p.Phe566del
XM_011533030.2:c.1693_1695del	XP_011531332.1:p.Phe565del
XR_001738891.1:n.2200_2202del
XR_939707.2:n.2200_2202del
NM_022437.3:c.1684_1686del MANE Select	NP_071882.1:p.Phe562del
NM_001357321.2:c.1681_1683del	NP_001344250.1:p.Phe561del