Canonical Allele Identifier: CA2658820520

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43838974-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43838977_43838978del , CM000664.2:g.43838977_43838978del	GRCh38
NC_000002.11:g.44066116_44066117del , CM000664.1:g.44066116_44066117del	GRCh37
NC_000002.10:g.43919620_43919621del	NCBI36
NG_008883.1:g.4844_4845del
NG_008884.1:g.5014_5015del
NG_008884.2:g.12036_12037del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.-77_-76del MANE Select	ENSP00000272286.2:n.-77_-76del
ENST00000643284.1:n.521-5530_521-5529del
ENST00000644611.1:c.76-5530_76-5529del	ENSP00000495423.1:n.76-5530_76-5529del
ENST00000272286.2:c.-77_-76del	ENSP00000272286.2:n.-77_-76del
NM_022437.2:c.-77_-76del	NP_071882.1:n.-77_-76del
XM_005264483.2:c.-77_-76del	XP_005264540.1:n.-77_-76del
XM_011533029.1:c.76-5530_76-5529del	XP_011531331.1:n.76-5530_76-5529del
XM_011533030.1:c.76-5530_76-5529del	XP_011531332.1:n.76-5530_76-5529del
XM_011533031.1:c.-153-5530_-153-5529del	XP_011531333.1:n.-153-5530_-153-5529del
XR_939707.1:n.566-5530_566-5529del
NM_001357321.1:c.-77_-76del	NP_001344250.1:n.-77_-76del
XM_011533029.2:c.76-5530_76-5529del	XP_011531331.1:n.76-5530_76-5529del
XM_011533030.2:c.76-5530_76-5529del	XP_011531332.1:n.76-5530_76-5529del
XR_001738891.1:n.580-5530_580-5529del
XR_939707.2:n.580-5530_580-5529del
NM_022437.3:c.-77_-76del MANE Select	NP_071882.1:n.-77_-76del
NM_001357321.2:c.-77_-76del	NP_001344250.1:n.-77_-76del