Canonical Allele Identifier: CA2493965043

Gene: ABCG8

Linked Data

• dbSNP Id: rs767706636

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877636_43877638dup , CM000664.2:g.43877636_43877638dup	GRCh38
NC_000002.11:g.44104775_44104777dup , CM000664.1:g.44104775_44104777dup	GRCh37
NC_000002.10:g.43958279_43958281dup	NCBI36
NG_008884.1:g.43673_43675dup
NG_008884.2:g.50695_50697dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1832_1834dup MANE Select	ENSP00000272286.2:p.Arg611_Thr612insArg
ENST00000272286.2:c.1832_1834dup	ENSP00000272286.2:p.Arg611_Thr612insArg
NM_022437.2:c.1832_1834dup	NP_071882.1:p.Arg611_Thr612insArg
XM_005264483.2:c.1829_1831dup	XP_005264540.1:p.Arg610_Thr611insArg
XM_011533029.1:c.1844_1846dup	XP_011531331.1:p.Arg615_Thr616insArg
XM_011533030.1:c.1841_1843dup	XP_011531332.1:p.Arg614_Thr615insArg
XM_011533031.1:c.1616_1618dup	XP_011531333.1:p.Arg539_Thr540insArg
XR_939707.1:n.2334_2336dup
NM_001357321.1:c.1829_1831dup	NP_001344250.1:p.Arg610_Thr611insArg
XM_011533029.2:c.1844_1846dup	XP_011531331.1:p.Arg615_Thr616insArg
XM_011533030.2:c.1841_1843dup	XP_011531332.1:p.Arg614_Thr615insArg
XR_001738891.1:n.2348_2350dup
XR_939707.2:n.2348_2350dup
NM_022437.3:c.1832_1834dup MANE Select	NP_071882.1:p.Arg611_Thr612insArg
NM_001357321.2:c.1829_1831dup	NP_001344250.1:p.Arg610_Thr611insArg