Canonical Allele Identifier: CA2493941251

Gene: ABCG8

Linked Data

• dbSNP Id: rs1668459604

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839036dup , CM000664.2:g.43839036dup	GRCh38
NC_000002.11:g.44066175dup , CM000664.1:g.44066175dup	GRCh37
NC_000002.10:g.43919679dup	NCBI36
NG_008883.1:g.4784dup
NG_008884.1:g.5073dup
NG_008884.2:g.12095dup

Transcript Alleles

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