Canonical Allele Identifier: CA2658820900

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43839140-C-CCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839141_43839143dup , CM000664.2:g.43839141_43839143dup	GRCh38
NC_000002.11:g.44066280_44066282dup , CM000664.1:g.44066280_44066282dup	GRCh37
NC_000002.10:g.43919784_43919786dup	NCBI36
NG_008883.1:g.4677_4679dup
NG_008884.1:g.5178_5180dup
NG_008884.2:g.12200_12202dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+25_63+27dup MANE Select	ENSP00000272286.2:n.63+25_63+27dup
ENST00000643284.1:n.521-5366_521-5364dup
ENST00000644611.1:c.76-5366_76-5364dup	ENSP00000495423.1:n.76-5366_76-5364dup
ENST00000272286.2:c.63+25_63+27dup	ENSP00000272286.2:n.63+25_63+27dup
NM_022437.2:c.63+25_63+27dup	NP_071882.1:n.63+25_63+27dup
XM_005264483.2:c.63+25_63+27dup	XP_005264540.1:n.63+25_63+27dup
XM_011533029.1:c.76-5366_76-5364dup	XP_011531331.1:n.76-5366_76-5364dup
XM_011533030.1:c.76-5366_76-5364dup	XP_011531332.1:n.76-5366_76-5364dup
XM_011533031.1:c.-153-5366_-153-5364dup	XP_011531333.1:n.-153-5366_-153-5364dup
XR_939707.1:n.566-5366_566-5364dup
NM_001357321.1:c.63+25_63+27dup	NP_001344250.1:n.63+25_63+27dup
XM_011533029.2:c.76-5366_76-5364dup	XP_011531331.1:n.76-5366_76-5364dup
XM_011533030.2:c.76-5366_76-5364dup	XP_011531332.1:n.76-5366_76-5364dup
XR_001738891.1:n.580-5366_580-5364dup
XR_939707.2:n.580-5366_580-5364dup
NM_022437.3:c.63+25_63+27dup MANE Select	NP_071882.1:n.63+25_63+27dup
NM_001357321.2:c.63+25_63+27dup	NP_001344250.1:n.63+25_63+27dup