Canonical Allele Identifier: CA1636861

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 2187070
• ClinVar RCV Id: RCV002611320
• dbSNP Id: rs781381103
• ExAC: 2:44066268 TGG / T
• gnomAD v2: 2-44066268-TGG-T
• gnomAD v3: 2-43839129-TGG-T
• gnomAD v4: 2-43839129-TGG-T
• MyVariant Identifiers: chr2:g.44066269_44066270del (hg19) ; chr2:g.43839131_43839132del (hg38) ; chr2:g.43839130_43839131del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839131_43839132del , CM000664.2:g.43839131_43839132del	GRCh38
NC_000002.11:g.44066270_44066271del , CM000664.1:g.44066270_44066271del	GRCh37
NC_000002.10:g.43919774_43919775del	NCBI36
NG_008883.1:g.4689_4690del
NG_008884.1:g.5168_5169del
NG_008884.2:g.12190_12191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+15_63+16del MANE Select	ENSP00000272286.2:n.63+15_63+16del
ENST00000643284.1:n.521-5376_521-5375del
ENST00000644611.1:c.76-5376_76-5375del	ENSP00000495423.1:n.76-5376_76-5375del
ENST00000272286.2:c.63+15_63+16del	ENSP00000272286.2:n.63+15_63+16del
NM_022437.2:c.63+15_63+16del	NP_071882.1:n.63+15_63+16del
XM_005264483.2:c.63+15_63+16del	XP_005264540.1:n.63+15_63+16del
XM_011533029.1:c.76-5376_76-5375del	XP_011531331.1:n.76-5376_76-5375del
XM_011533030.1:c.76-5376_76-5375del	XP_011531332.1:n.76-5376_76-5375del
XM_011533031.1:c.-153-5376_-153-5375del	XP_011531333.1:n.-153-5376_-153-5375del
XR_939707.1:n.566-5376_566-5375del
NM_001357321.1:c.63+15_63+16del	NP_001344250.1:n.63+15_63+16del
XM_011533029.2:c.76-5376_76-5375del	XP_011531331.1:n.76-5376_76-5375del
XM_011533030.2:c.76-5376_76-5375del	XP_011531332.1:n.76-5376_76-5375del
XR_001738891.1:n.580-5376_580-5375del
XR_939707.2:n.580-5376_580-5375del
NM_022437.3:c.63+15_63+16del MANE Select	NP_071882.1:n.63+15_63+16del
NM_001357321.2:c.63+15_63+16del	NP_001344250.1:n.63+15_63+16del