Canonical Allele Identifier: CA2493941247

Gene: ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839034_43839036delinsGTC , CM000664.2:g.43839034_43839036delinsGTC	GRCh38
NC_000002.11:g.44066173_44066175delinsGTC , CM000664.1:g.44066173_44066175delinsGTC	GRCh37
NC_000002.10:g.43919677_43919679delinsGTC	NCBI36
NG_008883.1:g.4784_4786delinsGAC
NG_008884.1:g.5071_5073delinsGTC
NG_008884.2:g.12093_12095delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.-20_-18delinsGTC MANE Select	ENSP00000272286.2:n.-20_-18delinsGTC
ENST00000643284.1:n.521-5473_521-5471delinsGTC
ENST00000644611.1:c.76-5473_76-5471delinsGTC	ENSP00000495423.1:n.76-5473_76-5471delinsGTC
ENST00000272286.2:c.-20_-18delinsGTC	ENSP00000272286.2:n.-20_-18delinsGTC
NM_022437.2:c.-20_-18delinsGTC	NP_071882.1:n.-20_-18delinsGTC
XM_005264483.2:c.-20_-18delinsGTC	XP_005264540.1:n.-20_-18delinsGTC
XM_011533029.1:c.76-5473_76-5471delinsGTC	XP_011531331.1:n.76-5473_76-5471delinsGTC
XM_011533030.1:c.76-5473_76-5471delinsGTC	XP_011531332.1:n.76-5473_76-5471delinsGTC
XM_011533031.1:c.-153-5473_-153-5471delinsGTC	XP_011531333.1:n.-153-5473_-153-5471delinsGTC
XR_939707.1:n.566-5473_566-5471delinsGTC
NM_001357321.1:c.-20_-18delinsGTC	NP_001344250.1:n.-20_-18delinsGTC
XM_011533029.2:c.76-5473_76-5471delinsGTC	XP_011531331.1:n.76-5473_76-5471delinsGTC
XM_011533030.2:c.76-5473_76-5471delinsGTC	XP_011531332.1:n.76-5473_76-5471delinsGTC
XR_001738891.1:n.580-5473_580-5471delinsGTC
XR_939707.2:n.580-5473_580-5471delinsGTC
NM_022437.3:c.-20_-18delinsGTC MANE Select	NP_071882.1:n.-20_-18delinsGTC
NM_001357321.2:c.-20_-18delinsGTC	NP_001344250.1:n.-20_-18delinsGTC