Canonical Allele Identifier: CA2493941295
Gene: ABCG8 HGNC NCBI

Linked Data

dbSNP Id: rs1668464331

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43839099_43839102del , CM000664.2:g.43839099_43839102del GRCh38
NC_000002.11:g.44066238_44066241del , CM000664.1:g.44066238_44066241del GRCh37
NC_000002.10:g.43919742_43919745del NCBI36
NG_008883.1:g.4719_4722del
NG_008884.1:g.5136_5139del
NG_008884.2:g.12158_12161del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.46_49del MANE Select ENSP00000272286.2:p.Thr16ProfsTer?
ENST00000643284.1:n.521-5408_521-5405del
ENST00000644611.1:c.76-5408_76-5405del ENSP00000495423.1:n.76-5408_76-5405del
ENST00000272286.2:c.46_49del ENSP00000272286.2:p.Thr16ProfsTer?
NM_022437.2:c.46_49del NP_071882.1:p.Thr16ProfsTer?
XM_005264483.2:c.46_49del XP_005264540.1:p.Thr16ProfsTer?
XM_011533029.1:c.76-5408_76-5405del XP_011531331.1:n.76-5408_76-5405del
XM_011533030.1:c.76-5408_76-5405del XP_011531332.1:n.76-5408_76-5405del
XM_011533031.1:c.-153-5408_-153-5405del XP_011531333.1:n.-153-5408_-153-5405del
XR_939707.1:n.566-5408_566-5405del
NM_001357321.1:c.46_49del NP_001344250.1:p.Thr16ProfsTer?
XM_011533029.2:c.76-5408_76-5405del XP_011531331.1:n.76-5408_76-5405del
XM_011533030.2:c.76-5408_76-5405del XP_011531332.1:n.76-5408_76-5405del
XR_001738891.1:n.580-5408_580-5405del
XR_939707.2:n.580-5408_580-5405del
NM_022437.3:c.46_49del MANE Select NP_071882.1:p.Thr16ProfsTer?
NM_001357321.2:c.46_49del NP_001344250.1:p.Thr16ProfsTer?