Canonical Allele Identifier: CA769057112
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs1454163726

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43839285_43839290dup , CM000664.2:g.43839285_43839290dup GRCh38
NC_000002.11:g.44066424_44066429dup , CM000664.1:g.44066424_44066429dup GRCh37
NC_000002.10:g.43919928_43919933dup NCBI36
NG_008883.1:g.4533_4538dup
NG_008884.1:g.5322_5327dup
NG_008884.2:g.12344_12349dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.63+169_63+174dup MANE Select ENSP00000272286.2:n.63+169_63+174dup
ENST00000643284.1:n.521-5222_521-5217dup
ENST00000644611.1:c.76-5222_76-5217dup ENSP00000495423.1:n.76-5222_76-5217dup
ENST00000272286.2:c.63+169_63+174dup ENSP00000272286.2:n.63+169_63+174dup
NM_022437.2:c.63+169_63+174dup NP_071882.1:n.63+169_63+174dup
XM_005264483.2:c.63+169_63+174dup XP_005264540.1:n.63+169_63+174dup
XM_011533029.1:c.76-5222_76-5217dup XP_011531331.1:n.76-5222_76-5217dup
XM_011533030.1:c.76-5222_76-5217dup XP_011531332.1:n.76-5222_76-5217dup
XM_011533031.1:c.-153-5222_-153-5217dup XP_011531333.1:n.-153-5222_-153-5217dup
XR_939707.1:n.566-5222_566-5217dup
NM_001357321.1:c.63+169_63+174dup NP_001344250.1:n.63+169_63+174dup
XM_011533029.2:c.76-5222_76-5217dup XP_011531331.1:n.76-5222_76-5217dup
XM_011533030.2:c.76-5222_76-5217dup XP_011531332.1:n.76-5222_76-5217dup
XR_001738891.1:n.580-5222_580-5217dup
XR_939707.2:n.580-5222_580-5217dup
NM_022437.3:c.63+169_63+174dup MANE Select NP_071882.1:n.63+169_63+174dup
NM_001357321.2:c.63+169_63+174dup NP_001344250.1:n.63+169_63+174dup